hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Summary
Gene Symbol
  • HADHB
Aliases
  • MTPB
  • mitochondrial trifunctional protein, beta subunit
Organism
Homo sapiens (human)
External Links
NCBI Gene
3032
HGNC
4803
KEGG Gene ID
hsa:3032
PubChem
3032
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Acyltransferase
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Endoplasmic reticulum
  • Fatty acid metabolism
  • Mitochondrion inner membrane
  • Mitochondrion outer membrane
  • Proteomics identification
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
F5GZQ3
  • TP-beta
P55084
  • TP-beta
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000138029

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
K07509
Name
acetyl-CoA acyltransferase [EC:2.3.1.16]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 168 in total
DO ID Disease Name Source
DOID:0050539 Charcot-Marie-Tooth disease type 2
DOID:0050572 cone-rod dystrophy
DOID:10652 Alzheimer's disease
DOID:0050700 cardiomyopathy
DOID:0050766 choreaacanthocytosis
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
DOID:0080108 myoglobinuria
DOID:0080199 colorectal carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 63 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000580 Pigmentary retinopathy
HP:0000829 Hypoparathyroidism
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001254 Lethargy
HP:0001259 Coma
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001284 Areflexia
Displaying all 2 entries
Disease ID Disease Name
OMIM:620300
  • mitochondrial trifunctional protein deficiency 2
ORPHA:746
  • mitochondrial trifunctional protein deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001640
Gene Name
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta 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