SRD5A2

{{Short description|Protein-coding gene in the species Homo sapiens}}

The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2),{{cite journal | vauthors = Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW | title = Molecular genetics of steroid 5 alpha-reductase 2 deficiency | journal = J Clin Invest | volume = 90 | issue = 3 | pages = 799–809 |date=Oct 1992 | pmid = 1522235 | pmc = 329933 | doi = 10.1172/JCI115954 }}{{cite web |title=SRD5A2 steroid 5 alpha-reductase 2 [Homo sapiens (human)] - Gene - NCBI |url=https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=6716 |website=www.ncbi.nlm.nih.gov |access-date=31 August 2021}} 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.

References

{{cite journal |vauthors=Thigpen AE, Davis DL, Gautier T, etal |title=Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. |journal=N. Engl. J. Med. |volume=327 |issue= 17 |pages= 1216–9 |year= 1992 |pmid= 1406794 |doi=10.1056/NEJM199210223271706 |doi-access=free }}
{{cite journal |vauthors=Labrie F, Sugimoto Y, Luu-The V, etal |title=Structure of human type II 5 alpha-reductase gene. |journal=Endocrinology |volume=131 |issue= 3 |pages= 1571–3 |year= 1992 |pmid= 1505484 |doi=10.1210/endo.131.3.1505484 }}
{{cite journal | vauthors=Andersson S, Berman DM, Jenkins EP, Russell DW |title=Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. |journal=Nature |volume=354 |issue= 6349 |pages= 159–61 |year= 1991 |pmid= 1944596 |doi= 10.1038/354159a0 |pmc=4451825 |bibcode=1991Natur.354..159A }}
{{cite journal |vauthors=Boudon C, Lobaccaro JM, Lumbroso S, etal |title=A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. |journal=Clin. Endocrinol. |volume=43 |issue= 2 |pages= 183–8 |year= 1995 |pmid= 7554313 |doi=10.1111/j.1365-2265.1995.tb01913.x |s2cid=84417489 }}
{{cite journal |vauthors=Thigpen AE, Silver RI, Guileyardo JM, etal |title=Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. |journal=J. Clin. Invest. |volume=92 |issue= 2 |pages= 903–10 |year= 1993 |pmid= 7688765 |doi=10.1172/JCI116665 | pmc=294929 }}
{{cite journal |vauthors=Cai LQ, Zhu YS, Katz MD, etal |title=5 alpha-reductase-2 gene mutations in the Dominican Republic. |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue= 5 |pages= 1730–5 |year= 1996 |doi=10.1210/jcem.81.5.8626825 |pmid= 8626825 |doi-access=free }}
{{cite journal |vauthors=Hochberg Z, Chayen R, Reiss N, etal |title=Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=81 |issue= 8 |pages= 2821–7 |year= 1996 |doi=10.1210/jcem.81.8.8768837 |pmid= 8768837 }}
{{cite journal |vauthors=Vilchis F, Canto P, Chávez B, etal |title=Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme. |journal=Am. J. Med. Genet. |volume=69 |issue= 1 |pages= 69–72 |year= 1997 |pmid= 9066886 |doi=10.1002/(SICI)1096-8628(19970303)69:1<69::AID-AJMG13>3.0.CO;2-M }}
{{cite journal | vauthors=Anwar R, Gilbey SG, New JP, Markham AF |title=Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). |journal=Mol. Pathol. |volume=50 |issue= 1 |pages= 51–2 |year= 1997 |pmid= 9208814 |doi=10.1136/mp.50.1.51 | pmc=379579 }}
{{cite journal |vauthors=Can S, Zhu YS, Cai LQ, etal |title=The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 2 |pages= 560–9 |year= 1998 |doi=10.1210/jcem.83.2.4535 |pmid= 9467575 |doi-access=free }}
{{cite journal | vauthors=Nordenskjöld A, Ivarsson SA |title=Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. |journal=J. Clin. Endocrinol. Metab. |volume=83 |issue= 9 |pages= 3236–8 |year= 1998 |doi=10.1210/jcem.83.9.5125 |pmid= 9745434 |doi-access=free }}
{{cite journal | vauthors=Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J |title=Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. |journal=Am. J. Med. Genet. |volume=80 |issue= 3 |pages= 269–72 |year= 1999 |pmid= 9843052 |doi=10.1002/(SICI)1096-8628(19981116)80:3<269::AID-AJMG18>3.0.CO;2-T }}
{{cite journal |vauthors=Nnane IP, Kato K, Liu Y, etal |title=Inhibition of androgen synthesis in human testicular and prostatic microsomes and in male rats by novel steroidal compounds. |journal=Endocrinology |volume=140 |issue= 6 |pages= 2891–7 |year= 1999 |pmid= 10342882 |doi=10.1210/endo.140.6.6832 |doi-access=free }}
{{cite journal |vauthors=Makridakis NM, Ross RK, Pike MC, etal |title=Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. |journal=Lancet |volume=354 |issue= 9183 |pages= 975–8 |year= 1999 |pmid= 10501358 |doi=10.1016/S0140-6736(98)11282-5 |s2cid=23565454 }}
{{cite journal |vauthors=Vilchis F, Méndez JP, Canto P, etal |title=Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. |journal=Clin. Endocrinol. |volume=52 |issue= 3 |pages= 383–7 |year= 2000 |pmid= 10718838 |doi=10.1046/j.1365-2265.2000.00941.x |s2cid=25689395 }}
{{cite journal | vauthors=Hellwinkel OJ, Müller A, Struve D, Hiort O |title=Influence of androgens and age on androgen receptor and 5 alpha-reductase II transcription. |journal=Eur. J. Endocrinol. |volume=143 |issue= 2 |pages= 217–25 |year= 2000 |pmid= 10913941 |doi=10.1530/eje.0.1430217 |doi-access=free }}
{{cite journal | vauthors=Chávez B, Valdez E, Vilchis F |title=Uniparental disomy in steroid 5alpha-reductase 2 deficiency. |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue= 9 |pages= 3147–50 |year= 2000 |doi=10.1210/jcem.85.9.6786 |pmid= 10999800 |s2cid=84382616 |doi-access=free }}
{{cite journal |vauthors=Kim KS, Liu W, Cunha GR, etal |title=Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra. |journal=Cell Tissue Res. |volume=307 |issue= 2 |pages= 145–53 |year= 2002 |pmid= 11845321 |doi= 10.1007/s004410100464 |s2cid=3345015 }}
{{cite journal |vauthors=Hiort O, Schütt SM, Bals-Pratsch M, etal |title=A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency. |journal=Int. J. Androl. |volume=25 |issue= 1 |pages= 55–8 |year= 2002 |pmid= 11869378 |doi=10.1046/j.1365-2605.2002.00325.x |doi-access=free }}

SRD5A2

See also

References

Further reading