SRD5A2 explained

The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2),^{[1] [2]} one of three isozymes of 5α-reductase.

5αR2 catalyzes the conversion of the male sex hormone testosterone into the more potent androgen, dihydrotestosterone.

5αR2 is a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The enzyme is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in 5αR2 activity of the can lead to a condition known as 5α-reductase 2 deficiency, which is a cause of 46,XY DSD that presents as atypical male genitalia.

See also

• 5α-Reductase

Further reading

• Thigpen AE, Davis DL, Gautier T, etal . Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. . N. Engl. J. Med. . 327 . 17 . 1216–9 . 1992 . 1406794 . 10.1056/NEJM199210223271706 . free .
• Labrie F, Sugimoto Y, Luu-The V, etal . Structure of human type II 5 alpha-reductase gene. . Endocrinology . 131 . 3 . 1571–3 . 1992 . 1505484 . 10.1210/endo.131.3.1505484 .
• Andersson S, Berman DM, Jenkins EP, Russell DW . Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. . Nature . 354 . 6349 . 159–61 . 1991 . 1944596 . 10.1038/354159a0 . 4451825 . 1991Natur.354..159A .
• Boudon C, Lobaccaro JM, Lumbroso S, etal . 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 . 1995 . 7554313 . 10.1111/j.1365-2265.1995.tb01913.x . 84417489 .
• Thigpen AE, Silver RI, Guileyardo JM, etal . Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. . J. Clin. Invest. . 92 . 2 . 903–10 . 1993 . 7688765 . 10.1172/JCI116665 . 294929 .
• Cai LQ, Zhu YS, Katz MD, etal . 5 alpha-reductase-2 gene mutations in the Dominican Republic. . J. Clin. Endocrinol. Metab. . 81 . 5 . 1730–5 . 1996 . 10.1210/jcem.81.5.8626825 . 8626825 . free .
• Hochberg Z, Chayen R, Reiss N, etal . 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 . 1996 . 10.1210/jcem.81.8.8768837 . 8768837 .
• Vilchis F, Canto P, Chávez B, etal . Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme. . Am. J. Med. Genet. . 69 . 1 . 69–72 . 1997 . 9066886 . 10.1002/(SICI)1096-8628(19970303)69:1<69::AID-AJMG13>3.0.CO;2-M .
• Anwar R, Gilbey SG, New JP, Markham AF . Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). . Mol. Pathol. . 50 . 1 . 51–2 . 1997 . 9208814 . 10.1136/mp.50.1.51 . 379579 .
• Can S, Zhu YS, Cai LQ, etal . The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. . J. Clin. Endocrinol. Metab. . 83 . 2 . 560–9 . 1998 . 10.1210/jcem.83.2.4535 . 9467575 . free .
• Nordenskjöld A, Ivarsson SA . Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. . J. Clin. Endocrinol. Metab. . 83 . 9 . 3236–8 . 1998 . 10.1210/jcem.83.9.5125 . 9745434 . free .
• Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J . Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. . Am. J. Med. Genet. . 80 . 3 . 269–72 . 1999 . 9843052 . 10.1002/(SICI)1096-8628(19981116)80:3<269::AID-AJMG18>3.0.CO;2-T .
• Nnane IP, Kato K, Liu Y, etal . Inhibition of androgen synthesis in human testicular and prostatic microsomes and in male rats by novel steroidal compounds. . Endocrinology . 140 . 6 . 2891–7 . 1999 . 10342882 . 10.1210/endo.140.6.6832 . free .
• Makridakis NM, Ross RK, Pike MC, etal . 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 . 1999 . 10501358 . 10.1016/S0140-6736(98)11282-5 . 23565454 .
• Vilchis F, Méndez JP, Canto P, etal . Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. . Clin. Endocrinol. . 52 . 3 . 383–7 . 2000 . 10718838 . 10.1046/j.1365-2265.2000.00941.x . 25689395 .
• Hellwinkel OJ, Müller A, Struve D, Hiort O . Influence of androgens and age on androgen receptor and 5 alpha-reductase II transcription. . Eur. J. Endocrinol. . 143 . 2 . 217–25 . 2000 . 10913941 . 10.1530/eje.0.1430217 . free .
• Chávez B, Valdez E, Vilchis F . Uniparental disomy in steroid 5alpha-reductase 2 deficiency. . J. Clin. Endocrinol. Metab. . 85 . 9 . 3147–50 . 2000 . 10.1210/jcem.85.9.6786 . 10999800 . 84382616 . free .
• Kim KS, Liu W, Cunha GR, etal . 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 . 2002 . 11845321 . 10.1007/s004410100464 . 3345015 .
• Hiort O, Schütt SM, Bals-Pratsch M, etal . A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency. . Int. J. Androl. . 25 . 1 . 55–8 . 2002 . 11869378 . 10.1046/j.1365-2605.2002.00325.x . free .

Notes and References

1. Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW . Molecular genetics of steroid 5 alpha-reductase 2 deficiency . J Clin Invest . 90 . 3 . 799–809 . Oct 1992 . 1522235 . 329933 . 10.1172/JCI115954 .
2. Web site: SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens (human)] - Gene - NCBI ]. www.ncbi.nlm.nih.gov . 31 August 2021.