The humangeneSRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2),[5][6] one of three isozymes of5α-reductase.
5αR2 is amicrosomal protein expressed at high levels in androgen-sensitive tissues such as theprostate. The enzyme is active at acidic pH and is sensitive to the 4-azasteroid inhibitorfinasteride. Deficiencies in 5αR2 activity of the can lead to a condition known as5α-reductase 2 deficiency, which is a cause of 46,XY DSD that presents as atypical male genitalia.
Labrie F, Sugimoto Y, Luu-The V, et al. (1992). "Structure of human type II 5 alpha-reductase gene".Endocrinology.131 (3):1571–3.doi:10.1210/endo.131.3.1505484.PMID1505484.
Boudon C, Lobaccaro JM, Lumbroso S, et al. (1995). "A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency".Clin. Endocrinol.43 (2):183–8.doi:10.1111/j.1365-2265.1995.tb01913.x.PMID7554313.S2CID84417489.
Hochberg Z, Chayen R, Reiss N, et al. (1996). "Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency".J. Clin. Endocrinol. Metab.81 (8):2821–7.doi:10.1210/jcem.81.8.8768837.PMID8768837.
Makridakis NM, Ross RK, Pike MC, et al. (1999). "Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA".Lancet.354 (9183):975–8.doi:10.1016/S0140-6736(98)11282-5.PMID10501358.S2CID23565454.
Vilchis F, Méndez JP, Canto P, et al. (2000). "Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency".Clin. Endocrinol.52 (3):383–7.doi:10.1046/j.1365-2265.2000.00941.x.PMID10718838.S2CID25689395.
Kim KS, Liu W, Cunha GR, et al. (2002). "Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra".Cell Tissue Res.307 (2):145–53.doi:10.1007/s004410100464.PMID11845321.S2CID3345015.
