SRD5A2

Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), also known as SRD5A2, is a human gene.cite web | title = Entrez Gene: SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6716| accessdate = ]

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).cite web | title = Entrez Gene: SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6716| accessdate = ]

ee also

* 5-alpha reductase

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Thigpen AE, Davis DL, Gautier T, "et al." |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=
*cite journal | author=Labrie F, Sugimoto Y, Luu-The V, "et al." |title=Structure of human type II 5 alpha-reductase gene. |journal=Endocrinology |volume=131 |issue= 3 |pages= 1571–3 |year= 1992 |pmid= 1505484 |doi=
*cite journal | author=Thigpen AE, Davis DL, Milatovich A, "et al." |title=Molecular genetics of steroid 5 alpha-reductase 2 deficiency. |journal=J. Clin. Invest. |volume=90 |issue= 3 |pages= 799–809 |year= 1992 |pmid= 1522235 |doi=
*cite journal | author=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
*cite journal | author=Boudon C, Lobaccaro JM, Lumbroso S, "et al." |title=A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. |journal=Clin. Endocrinol. (Oxf) |volume=43 |issue= 2 |pages= 183–8 |year= 1995 |pmid= 7554313 |doi=
*cite journal | author=Thigpen AE, Silver RI, Guileyardo JM, "et al." |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=
*cite journal | author=Cai LQ, Zhu YS, Katz MD, "et al." |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 |pmid= 8626825 |doi=
*cite journal | author=Hochberg Z, Chayen R, Reiss N, "et al." |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 |pmid= 8768837 |doi=
*cite journal | author=Vilchis F, Canto P, Chávez B, "et al." |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=
*cite journal | author=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=MP, Mol. Pathol. |volume=50 |issue= 1 |pages= 51–2 |year= 1997 |pmid= 9208814 |doi=
*cite journal | author=Can S, Zhu YS, Cai LQ, "et al." |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 |pmid= 9467575 |doi=
*cite journal | author=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 |pmid= 9745434 |doi=
*cite journal | author=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=
*cite journal | author=Nnane IP, Kato K, Liu Y, "et al." |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=
*cite journal | author=Makridakis NM, Ross RK, Pike MC, "et al." |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=
*cite journal | author=Vilchis F, Méndez JP, Canto P, "et al." |title=Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. |journal=Clin. Endocrinol. (Oxf) |volume=52 |issue= 3 |pages= 383–7 |year= 2000 |pmid= 10718838 |doi=
*cite journal | author=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=
*cite journal | author=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 |pmid= 10999800 |doi=
*cite journal | author=Kim KS, Liu W, Cunha GR, "et al." |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
*cite journal | author=Hiort O, Schütt SM, Bals-Pratsch M, "et al." |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=

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