The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2),[5][6] 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.
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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.
- ^ "SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 31 August 2021.
Further reading
- Thigpen AE, Davis DL, Gautier T, et al. (1992). "Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred". N. Engl. J. Med. 327 (17): 1216–9. doi:10.1056/NEJM199210223271706. PMID 1406794.
- 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. PMID 1505484.
- Andersson S, Berman DM, Jenkins EP, Russell DW (1991). "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism". Nature. 354 (6349): 159–61. Bibcode:1991Natur.354..159A. doi:10.1038/354159a0. PMC 4451825. PMID 1944596.
- 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. PMID 7554313. S2CID 84417489.
- Thigpen AE, Silver RI, Guileyardo JM, et al. (1993). "Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression". J. Clin. Invest. 92 (2): 903–10. doi:10.1172/JCI116665. PMC 294929. PMID 7688765.
- Cai LQ, Zhu YS, Katz MD, et al. (1996). "5 alpha-reductase-2 gene mutations in the Dominican Republic". J. Clin. Endocrinol. Metab. 81 (5): 1730–5. doi:10.1210/jcem.81.5.8626825. PMID 8626825.
- 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. PMID 8768837.
- Vilchis F, Canto P, Chávez B, et al. (1997). "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. doi:10.1002/(SICI)1096-8628(19970303)69:1<69::AID-AJMG13>3.0.CO;2-M. PMID 9066886.
- Anwar R, Gilbey SG, New JP, Markham AF (1997). "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2)". Mol. Pathol. 50 (1): 51–2. doi:10.1136/mp.50.1.51. PMC 379579. PMID 9208814.
- Can S, Zhu YS, Cai LQ, et al. (1998). "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. doi:10.1210/jcem.83.2.4535. PMID 9467575.
- Nordenskjöld A, Ivarsson SA (1998). "Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family". J. Clin. Endocrinol. Metab. 83 (9): 3236–8. doi:10.1210/jcem.83.9.5125. PMID 9745434.
- Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J (1999). "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. doi:10.1002/(SICI)1096-8628(19981116)80:3<269::AID-AJMG18>3.0.CO;2-T. PMID 9843052.
- Nnane IP, Kato K, Liu Y, et al. (1999). "Inhibition of androgen synthesis in human testicular and prostatic microsomes and in male rats by novel steroidal compounds". Endocrinology. 140 (6): 2891–7. doi:10.1210/endo.140.6.6832. PMID 10342882.
- 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. PMID 10501358. S2CID 23565454.
- 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. PMID 10718838. S2CID 25689395.
- Hellwinkel OJ, Müller A, Struve D, Hiort O (2000). "Influence of androgens and age on androgen receptor and 5 alpha-reductase II transcription". Eur. J. Endocrinol. 143 (2): 217–25. doi:10.1530/eje.0.1430217. PMID 10913941.
- Chávez B, Valdez E, Vilchis F (2000). "Uniparental disomy in steroid 5alpha-reductase 2 deficiency". J. Clin. Endocrinol. Metab. 85 (9): 3147–50. doi:10.1210/jcem.85.9.6786. PMID 10999800. S2CID 84382616.
- 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. PMID 11845321. S2CID 3345015.
- Hiort O, Schütt SM, Bals-Pratsch M, et al. (2002). "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. doi:10.1046/j.1365-2605.2002.00325.x. PMID 11869378.
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