SRD5A2

From Wikipedia, the free encyclopedia

Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

Identifiers

Symbol(s)

SRD5A2; MGC138457

External IDs

OMIM: 607306 MGI: 2150380 HomoloGene: 37292

EC number

1.3.99.5

Gene ontology
Molecular Function:	• 3-oxo-5-alpha-steroid 4-dehydrogenase activity • sterol 5-alpha reductase activity • oxidoreductase activity
Cellular Component:	• endoplasmic reticulum • microsome • membrane • integral to membrane
Biological Process:	• androgen biosynthetic process • cell-cell signaling • sex determination • sex differentiation • male gonad development • cell differentiation • male genitalia development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000348 (mRNA)
NP_000339 (protein)

NM_053188 (mRNA)
NP_444418 (protein)

Location

Chr 2: 31.6 - 31.66 Mb

Chr 17: 73.92 - 73.95 Mb

Pubmed search

[1]

[2]

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.^[1]

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).^[1]

[edit] See also

5-alpha reductase

[edit] References

^ ^a ^b Entrez Gene: SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2).

[edit] 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. 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. PMID 1505484.
Thigpen AE, Davis DL, Milatovich A, et al. (1992). "Molecular genetics of steroid 5 alpha-reductase 2 deficiency.". J. Clin. Invest. 90 (3): 799–809. PMID 1522235.
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. doi:10.1038/354159a0. 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. (Oxf) 43 (2): 183–8. PMID 7554313.
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. 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. 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. 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. 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).". MP, Mol. Pathol. 50 (1): 51–2. 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. 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. 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. 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. 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. PMID 10501358.
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. (Oxf) 52 (3): 383–7. PMID 10718838.
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. 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. PMID 10999800.
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.
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. PMID 11869378.