NP_000339.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
3-oxo-5-alpha-steroid 4-dehydrogenase 2
NCBI Official Synonym Full Names
steroid 5 alpha-reductase 2
NCBI Protein Information
3-oxo-5-alpha-steroid 4-dehydrogenase 2
UniProt Protein Name
3-oxo-5-alpha-steroid 4-dehydrogenase 2
UniProt Synonym Protein Names
5 alpha-SR2; SR type 2; Steroid 5-alpha-reductase 2; S5AR 2; Type II 5-alpha reductase
UniProt Synonym Gene Names
UniProt Entry Name
S5A2_HUMAN
NCBI Summary for SRD5A2
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]
UniProt Comments for SRD5A2
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; Lipid Metabolism - androgen and estrogen; Membrane protein, integral; Oxidoreductase; EC 1.3.1.22
Chromosomal Location of Human Ortholog: 2p23
Cellular Component: cell soma; endoplasmic reticulum membrane; integral to membrane
Molecular Function: 3-oxo-5-alpha-steroid 4-dehydrogenase activity; amide binding; cholestenone 5-alpha-reductase activity; sterol 5-alpha reductase activity
Biological Process: androgen biosynthetic process; androgen metabolic process; biphenyl metabolic process; cell differentiation; cell-cell signaling; dibenzo-p-dioxin metabolic process; female genitalia development; hippocampus development; hypothalamus development; male genitalia development; male gonad development; phthalate metabolic process; response to drug; response to follicle-stimulating hormone stimulus; response to nutrient levels; response to peptide hormone stimulus; response to testosterone stimulus; steroid catabolic process
Disease: Pseudovaginal Perineoscrotal Hypospadias
Research Articles on SRD5A2
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Pathways associated with anti-SRD5A2 antibody
Diseases associated with anti-SRD5A2 antibody
Organs/Tissues associated with anti-SRD5A2 antibody
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