HSD3B2

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

Description

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Protein family

Enzymes, Membrane proteins predicted by MDM

Chromosome

1:p12 (119957554 - 119965658)

Ensembl ID

ENSG00000203859  (ver. 69.37)

Orthologs

-

Human splice variants