3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 2 (SRD5A2) Human Recombinant Protein

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

SRD5A2: Converts testosterone (T) into 5-alpha- dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. Defects in SRD5A2 are the cause of pseudovaginal perineoscrotal hypospadias (PPSH). A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum. Belongs to the steroid 5-alpha reductase family.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Lipid Metabolism - androgen and estrogen; EC 1.3.1.22; Oxidoreductase

Chromosomal Location of Human Ortholog: 2p23

Cellular Component: endoplasmic reticulum membrane; cell soma; integral to membrane

Molecular Function: amide binding; cholestenone 5-alpha-reductase activity; sterol 5-alpha reductase activity; 3-oxo-5-alpha-steroid 4-dehydrogenase activity

Biological Process: steroid metabolic process; response to nutrient levels; response to drug; response to peptide hormone stimulus; hypothalamus development; dibenzo-p-dioxin metabolic process; male gonad development; phthalate metabolic process; androgen metabolic process; hippocampus development; response to testosterone stimulus; androgen biosynthetic process; female genitalia development; biphenyl metabolic process; cell-cell signaling; male genitalia development; cell differentiation; response to follicle-stimulating hormone stimulus; steroid catabolic process

Disease: Pseudovaginal Perineoscrotal Hypospadias