DISEASES

Disease-gene associations mined from literature

Literature associating HSD3B2 and hypospadias

HSD3B2 [ENSP00000445122]

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids; Short chain dehydrogenase/reductase superfamily

Synonyms:  HSD3B2,  HSD3B2p,  hHSD3B2,  A0A024R0F9,  P26439 ...

Linkouts:  STRING  Pharos  UniProt