HSD17B10
Summary: This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:300256 Ensembl IDEnsembl:ENSG00000072506 HGNC IDHGNC:HGNC:4800 PHARMGKB IDPA162391638 Map LocationXp11.22 | |||||
GO terms in HSD17B10
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006629 | lipid metabolic process |
| BP | IMP | GO:0007005 | mitochondrion organization |
| BP | TAS | GO:0009083 | branched-chain amino acid catabolic process |
| BP | IDA | GO:0051289 | protein homotetramerization |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| BP | IDA | GO:0070901 | mitochondrial tRNA methylation |
Gene expression in normal tissue: HSD17B10
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HSD17B10
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP3871 | Valproic acid pathway |
| wikipathways | WP4010 | Liver steatosis AOP |
| wikipathways | WP465 | Tryptophan metabolism |
| smpdb | SMP00032 | Valine, Leucine and Isoleucine Degradation |
| smpdb | SMP00054 | Fatty Acid Elongation In Mitochondria |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HSD17B10
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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