DISEASES

Disease-gene associations mined from literature

Literature associating HSD3B1 and testicular Leydig cell tumor

HSD3B1 [ENSP00000358421]

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1; 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. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17- alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone to androstenedione and 5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone.

Synonyms:  HSD3B1,  HSD3B1p,  hHSD3B1,  E9PRN7,  P14060 ...

Linkouts:  STRING  Pharos  UniProt  OMIM