Disease-gene associations mined from literature

Literature associating HSD17B6 and hypotrichosis 2

HSD17B6 [ENSP00000451406]

Short chain dehydrogenase/reductase family 9C member 6; NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3- alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha- androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids; Short chain dehydrogenase/reductase superfamily

Synonyms:  HSD17B6,  HSD17B6p,  hHSD17B6,  A0A024RB43,  G3V3Y9 ...

Linkouts:  STRING  Pharos  UniProt