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Submissions

bile acid-CoA:amino acid N-acyltransferase

Summary

Gene Symbol

BAAT

Aliases

BAT
glycine N-choloyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

570

HGNC

932

KEGG Gene ID

hsa:570

PubChem

570

Alliance of Genome Resources

HGNC:932

Annotation

Keyword

Acyltransferase
Cytoplasm
Direct protein sequencing
Disease variant
Fatty acid metabolism
Peroxisome
Phosphoprotein
Reference proteome
Serine esterase

Proteins

Displaying 1 entry
UniProt	Protein Name
Q14032	Bile acid-CoA thioesterase Choloyl-CoA hydrolase Glycine N-choloyltransferase Long-chain fatty-acyl-CoA hydrolase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
animal organ regeneration	IEA
fatty acid metabolic process	IBA
taurine metabolic process	IDA	8034703
glycine metabolic process	IDA	8034703
acyl-CoA metabolic process	IBA IDA	12810727

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

amide metabolic process [inference]

acyl-CoA metabolic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

taurine metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

sulfur compound metabolic process [inference]

alkanesulfonate metabolic process [inference]

taurine metabolic process

thioester metabolic process [inference]

acyl-CoA metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

thioester metabolic process [inference]

acyl-CoA metabolic process

carbohydrate derivative metabolic process [inference]

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

taurine metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound metabolic process [inference]

bile acid metabolic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alkanesulfonate metabolic process [inference]

taurine metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

bile acid metabolic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

sulfur compound metabolic process [inference]

alkanesulfonate metabolic process [inference]

taurine metabolic process

thioester metabolic process [inference]

acyl-CoA metabolic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

ribose phosphate metabolic process [inference]

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

nucleotide metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

ribonucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

nucleoside bisphosphate metabolic process [inference]

ribonucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

purine-containing compound metabolic process [inference]

purine nucleotide metabolic process [inference]

purine ribonucleotide metabolic process [inference]

acyl-CoA metabolic process

purine nucleoside bisphosphate metabolic process [inference]

acyl-CoA metabolic process

developmental process [inference]

anatomical structure development [inference]

regeneration [inference]

animal organ regeneration

animal organ development [inference]

animal organ regeneration

gland development [inference]

liver development

Displaying **all 4** entries
GO Term	Evidence Code	PMID
intracellular membrane-bounded organelle	IDA
cytosol	IDA TAS	12810727 17256745 8034703
peroxisome	IBA IDA	17256745
peroxisomal matrix

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

microbody lumen [inference]

peroxisomal matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle

microbody [inference]

peroxisome

intracellular organelle [inference]

intracellular membrane-bounded organelle

microbody [inference]

peroxisome

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
acyl-CoA hydrolase activity	IBA
N-acyltransferase activity	IDA	12239217
glycine N-choloyltransferase activity	IDA	12810727 2037576 8034703
acyltransferase activity
protein binding	IPI	25416956 32814053

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

thiolester hydrolase activity [inference]

CoA hydrolase activity [inference]

choloyl-CoA hydrolase activity

acyl-CoA hydrolase activity

carboxylic ester hydrolase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K00659

Name

bile acid-CoA:amino acid N-acyltransferase [EC:2.3.1.65 3.1.2.2]

References

Rhea

RHEA:14001

glycine + choloyl-CoA

H⁺ + glycocholate + CoA

Enzyme

2.3.1.65

PMID

RHEA:31511

H₂O + chenodeoxycholoyl-CoA

H⁺ + chenodeoxycholate + CoA

Enzyme

3.1.2.27

PMID

RHEA:14541

H₂O + choloyl-CoA

H⁺ + cholate + CoA

Enzyme

3.1.2.27

PMID

RHEA:16305

H₂O + (3S)-hydroxy-3-methylglutaryl-CoA

H⁺ + 3-hydroxy-3-methylglutarate + CoA

Enzyme

PMID

13563516

RHEA:16645

H₂O + hexadecanoyl-CoA

H⁺ + CoA + hexadecanoate

Enzyme

3.1.2.2

PMID

Disease

Disease Ontology

Displaying entries **81 - 90** of **153** in total

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DO ID	Disease Name	Source
DOID:11612	polycystic ovary syndrome	DisGeNET
DOID:11634	myxedema	DisGeNET
DOID:11725	Cornelia de Lange syndrome	DisGeNET
DOID:11847	coronary thrombosis	DisGeNET DisGeNET
DOID:11981	morbid obesity	DisGeNET
DOID:11983	Prader-Willi syndrome	DisGeNET
DOID:12347	osteogenesis imperfecta	DisGeNET
DOID:12361	Graves' disease	DisGeNET
DOID:1247	blood coagulation disease	DisGeNET
DOID:12531	von Willebrand's disease	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying **all 9** entries
HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000952	Jaundice
HP:0001399	Hepatic failure
HP:0002240	Hepatomegaly
HP:0002748	Rickets
HP:0002908	Conjugated hyperbilirubinemia
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0011463	Childhood onset