hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Summary
Gene Symbol
  • HADHA
Aliases
  • GBP
  • LCEH
  • LCHAD
  • MTPA
  • gastrin-binding protein
  • long-chain 2-enoyl-CoA hydratase
  • long-chain-3-hydroxyacyl-CoA dehydrogenase
  • mitochondrial trifunctional protein, alpha subunit
Organism
Homo sapiens (human)
External Links
NCBI Gene
3030
HGNC
4801
KEGG Gene ID
hsa:3030
PubChem
3030
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Fatty acid metabolism
  • Lyase
  • Methylation
  • Mitochondrion inner membrane
  • Multifunctional enzyme
  • NAD
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Transferase
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
P40939
  • 78 kDa gastrin-binding protein
  • Monolysocardiolipin acyltransferase
  • TP-alpha
E9KL44
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000084754

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K07515
Name
enoyl-CoA hydratase / long-chain 3-hydroxyacyl-CoA dehydrogenase [EC:4.2.1.17 1.1.1.211]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 150 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050120 hemophagocytic lymphohistiocytosis
DOID:0050476 Barth syndrome
DOID:0050534 congenital stationary night blindness
DOID:0050572 cone-rod dystrophy
DOID:0050589 inflammatory bowel disease
DOID:0050700 cardiomyopathy
DOID:0050766 choreaacanthocytosis
DOID:0050811 congenital adrenal hyperplasia
DOID:0060235 carnitine palmitoyltransferase II deficiency
The Human Phenotype Ontology
Displaying entries 1 - 10 of 79 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000488 Retinopathy
HP:0000512 Abnormal electroretinogram
HP:0000532 Abnormal chorioretinal morphology
HP:0000533 Chorioretinal atrophy
HP:0000545 Myopia
HP:0000572 Visual loss
HP:0000577 Exotropia
HP:0000580 Pigmentary retinopathy
HP:0000613 Photophobia
Displaying all 4 entries
Disease ID Disease Name
OMIM:609016
  • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ORPHA:5
  • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OMIM:609015
  • mitochondrial trifunctional protein deficiency 1
ORPHA:746
  • mitochondrial trifunctional protein deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001501
Gene Name
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

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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