Synonyms:EDH17B3, ENTREZ:3293, HGNC:5212, HSD17B3, MIM:605573, NM_000197, NP_000188, SDR12C2, XM_011518618, XM_011518619, XM_017014671, XM_017014672, XM_017014673, XM_017014674, XM_017014675, XM_017014677, XM_024447529, XP_011516920, XP_011516921, XP_016870160, XP_016870161, XP_016870162, XP_016870163, XP_016870164, XP_016870166, XP_024303297, XR_002956778, hydroxysteroid 17-beta dehydrogenase 3
Omim:OMIM:605573
Id:ENSG00000130948
Hgnc:HGNC:5212
Description:hydroxysteroid 17-beta dehydrogenase 3
This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]