SRD5A2
3-oxo-5-alpha-steroid 4-dehydrogenase 2 is an enzyme that in humans is encoded by the SRD5A2 gene.[5][6]
Steroid 5-alpha reductase catalyzes the conversion of the male sex hormone testosterone into the more potent androgen, dihydrotestosterone.
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).[6]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000277893 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038541 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW (Oct 1992). "Molecular genetics of steroid 5 alpha-reductase 2 deficiency". J Clin Invest. 90 (3): 799–809. doi:10.1172/JCI115954. PMC 329933. PMID 1522235.
- ^ a b "Entrez Gene: SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)".
Further reading
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