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Steroid 5 Alpha Reductase 2 (SRD5a2)

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3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Alpha 2

Steroid 5 Alpha Reductase 2 (SRD5a2)
CCC M285
HGNC 11285
MGI 2150380
PubMed 12746845
RGD 621480
UniProt P31213
SRD5a2 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).
Steroid 5-alpha-reductase catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT).The cDNA contains a long 3-prime untranslated region and encodes a hydrophobic 254-amino acid protein that shares 50% sequence identity with human SRD5A1 and 46% identity with rat 5-alpha-reductase. The biochemical and pharmacologic properties of the enzyme were consistent with its being the major isozyme in genital tissue.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPM285Hu01 Recombinant Steroid 5 Alpha Reductase 2 (SRD5a2) Positive Control; Immunogen; SDS-PAGE; WB.
RPM285Hu03 Recombinant Steroid 5 Alpha Reductase 2 (SRD5a2) Positive Control; Immunogen; SDS-PAGE; WB.
RPM285Hu04 Recombinant Steroid 5 Alpha Reductase 2 (SRD5a2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAM285Hu21 Monoclonal Antibody to Steroid 5 Alpha Reductase 2 (SRD5a2) WB; IHC; ICC; IP.
PAM285Hu01 Polyclonal Antibody to Steroid 5 Alpha Reductase 2 (SRD5a2) WB; IHC; ICC; IP.
Assay Kits SEM285Hu ELISA Kit for Steroid 5 Alpha Reductase 2 (SRD5a2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Steroid 5 Alpha Reductase 2 (SRD5a2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Steroid 5 Alpha Reductase 2 (SRD5a2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Steroid 5 Alpha Reductase 2 (SRD5a2) Polyclonal Antibody Customized Service Offer
Assay Kits SEM285Mu ELISA Kit for Steroid 5 Alpha Reductase 2 (SRD5a2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPM285Ra01 Recombinant Steroid 5 Alpha Reductase 2 (SRD5a2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies MAM285Ra21 Monoclonal Antibody to Steroid 5 Alpha Reductase 2 (SRD5a2) WB; IHC; ICC; IP.
PAM285Ra01 Polyclonal Antibody to Steroid 5 Alpha Reductase 2 (SRD5a2) WB; IHC; ICC; IP.
Assay Kits SEM285Ra ELISA Kit for Steroid 5 Alpha Reductase 2 (SRD5a2) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism."Nature 354:159-161(1991) [PubMed] [Europe PMC] [Abstract]
  2. "Structure of human type II 5 alpha-reductase gene."Endocrinology 131:1571-1573(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Molecular genetics of steroid 5 alpha-reductase 2 deficiency."J. Clin. Invest. 90:799-809(1992) [PubMed] [Europe PMC] [Abstract]
  6. "A new deletion of the 5-alpha-reductase type 2 gene in a Turkish family with 5-alpha-reductase deficiency."Clin. Endocrinol. (Oxf.) 43:183-188(1995) [PubMed] [Europe PMC] [Abstract]
  7. "5-alpha-reductase-2 gene mutations in the Dominican Republic."J. Clin. Endocrinol. Metab. 81:1730-1735(1996) [PubMed] [Europe PMC] [Abstract]
  8. "Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5-alpha-reductase 2 deficiency."J. Clin. Endocrinol. Metab. 81:2821-2827(1996) [PubMed] [Europe PMC] [Abstract]
  9. "Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2)."Mol. Pathol. 50:51-52(1997) [PubMed] [Europe PMC] [Abstract]
  10. "Homozygous mutation (A228T) in the 5-alpha-reductase type 2 gene in a boy with 5-alpha-reductase deficiency: genotype-phenotype correlations."Am. J. Med. Genet. 80:269-272(1998) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular characterization of 5-alpha-reductase type 2 deficiency and fertility in a Swedish family."J. Clin. Endocrinol. Metab. 83:3236-3238(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA."Lancet 354:975-978(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency."Clin. Endocrinol. (Oxf.) 52:383-387(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Uniparental disomy in steroid 5-alpha-reductase 2 deficiency."J. Clin. Endocrinol. Metab. 85:3147-3150(2000) [PubMed] [Europe PMC] [Abstract]
  15. "Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study."Cancer Epidemiol. Biomarkers Prev. 11:417-418(2002) [PubMed] [Europe PMC] [Abstract]
  16. "Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients."J. Clin. Endocrinol. Metab. 88:3431-3436(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2."Eur. J. Hum. Genet. 12:321-332(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene."Horm. Res. 62:259-264(2004) [PubMed] [Europe PMC] [Abstract]
  19. "SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects."Clin. Endocrinol. (Oxf.) 63:375-380(2005) [PubMed] [Europe PMC] [Abstract]
  20. "New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2."J. Mol. Med. 83:569-576(2005) [PubMed] [Europe PMC] [Abstract]
  21. "A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family."Urology 66:407-410(2005) [PubMed] [Europe PMC] [Abstract]