HADHB
Summary: This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:143450 Ensembl IDEnsembl:ENSG00000138029 HGNC IDHGNC:HGNC:4803 PHARMGKB IDPA29177 Map Location2p23.3 | |||||
GO terms in HADHB
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| MF | TAS | GO:0003857 | 3-hydroxyacyl-CoA dehydrogenase activity |
| MF | IBA | GO:0003985 | acetyl-CoA C-acetyltransferase activity |
| MF | IBA | GO:0003988 | acetyl-CoA C-acyltransferase activity |
| MF | IBA | GO:0004300 | enoyl-CoA hydratase activity |
Gene expression in normal tissue: HADHB
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HADHB
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP143 | Fatty Acid Beta Oxidation |
| wikipathways | WP3871 | Valproic acid pathway |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| smpdb | SMP00051 | Fatty acid Metabolism |
| smpdb | SMP00054 | Fatty Acid Elongation In Mitochondria |
| smpdb | SMP00181 | Ethylmalonic Encephalopathy |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HADHB
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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