DISEASES

Disease-gene associations mined from literature

Literature associating HSD17B10 and syndromic X-linked intellectual disability type 10

HSD17B10 [ENSP00000168216]

3-hydroxyacyl-CoA dehydrogenase type-2; Mitochondrial dehydrogenase that catalyzes the beta-oxidation at position 17 of androgens and estrogens and has 3-alpha- hydroxysteroid dehydrogenase activity with androsterone (PubMed:9553139, PubMed:23042678, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Catalyzes the third step in the beta-oxidation of fatty acids (PubMed:9553139, PubMed:12917011, PubMed:18996107, PubMed:25925575, PubMed:28888424). Carries out oxidative conversions of 7-alpha-OH and 7-beta-OH bile acids . Also exhibits 20-beta-OH and 21-OH dehydrogenase activities with C21 steroids . By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) . Essential for structural and functional integrity of mitochondria . ECO:0000269|PubMed:18996107, ECO:0000269|PubMed:20077426, ECO:0000269|PubMed:23042678, ECO:0000269|PubMed:25925575, ECO:0000269|PubMed:26950678, ECO:0000269|PubMed:28888424,

Synonyms:  HSD17B10,  A0A0S2Z410,  Q5H928,  Q99714,  Q5H928p ...

Linkouts:  STRING  Pharos  UniProt  OMIM