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MGP002973

UniProt Annotations

Entry Information
Gene Namesteroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
Protein EntryS5A2_HUMAN
UniProt IDP31213
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiespH dependence: Optimally active at acidic pHs.;
Catalytic ActivityA 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo- Delta(4)-steroid + NADPH.
DiseasePseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]: 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. {ECO:0000269|PubMed:10718838, ECO:0000269|PubMed:10999800, ECO:0000269|PubMed:1522235, ECO:0000269|PubMed:15528927, ECO:0000269|PubMed:15770495, ECO:0000269|PubMed:16098368, ECO:0000269|PubMed:16181229, ECO:0000269|PubMed:7554313, ECO:0000269|PubMed:8626825, ECO:0000269|PubMed:8768837, ECO:0000269|PubMed:9208814, ECO:0000269|PubMed:9745434, ECO:0000269|PubMed:9843052}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionConverts 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.
PolymorphismIndividuals with Thr-49 have an increased risk of prostate cancer. The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme.
SimilarityBelongs to the steroid 5-alpha reductase family. {ECO:0000305}.
Subcellular LocationMicrosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityExpressed in high levels in the prostate and many other androgen-sensitive tissues.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/srd5a2/";
Web ResourceName=Wikipedia; Note=5-alpha reductase entry; URL="http://en.wikipedia.org/wiki/5_alpha_reductase";
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