lecithin-cholesterol acyltransferase

Summary
Gene Symbol
  • LCAT
Aliases
  • phosphatidylcholine--sterol O-acyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
3931
HGNC
6522
KEGG Gene ID
hsa:3931
PubChem
3931
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acyltransferase
  • Cholesterol metabolism
  • Corneal dystrophy
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Hydrolase
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
P04180
  • 1-alkyl-2-acetylglycerophosphocholine esterase
  • Lecithin-cholesterol acyltransferase
  • Phospholipid-cholesterol acyltransferase
  • Platelet-activating factor acetylhydrolase
A0A140VK24
  • Lecithin-cholesterol acyltransferase
  • Phospholipid-cholesterol acyltransferase
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00650
Name
lecithin-cholesterol acyltransferase [EC:2.3.1.43]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 151 in total
DO ID Disease Name Source
DOID:557 kidney disease
DOID:0014667 disease of metabolism
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050766 choreaacanthocytosis
DOID:0060224 atrial fibrillation
DOID:0060262 gallbladder disease
DOID:0060357 chylomicron retention disease
DOID:0060600 obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum
DOID:0060843 hereditary neuropathy with liability to pressure palsies
DOID:0070161 hereditary sensory and autonomic neuropathy type 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000083 Renal insufficiency
HP:0000093 Proteinuria
HP:0000505 Visual impairment
HP:0001084 Corneal arcus
HP:0001681 Angina pectoris
HP:0001744 Splenomegaly
HP:0001878 Hemolytic anemia
HP:0001895 Normochromic anemia
HP:0002155 Hypertriglyceridemia
Displaying all 3 entries
Disease ID Disease Name
ORPHA:79292
  • fish eye disease
OMIM:245900
  • Norum disease
OMIM:136120
  • fish eye disease
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001118
Gene Name
lecithin-cholesterol acyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024