SRD5A2

3-oxo-5α-steroid 4-dehydrogenase 2 is an enzyme that in humans is encoded by the SRD5A2 gene.[4][5] It is one of three isozymes of 5α-reductase.

SRD5A2
Identifiers
Aliases	SRD5A2, entrez:6716, steroid 5 alpha-reductase 2
External IDs	OMIM: 607306 MGI: 2150380 HomoloGene: 37292 GeneCards: SRD5A2
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p23.1 Start 31,522,480 bp[1] End 31,580,938 bp[1]
RNA expression pattern More reference expression data
Gene ontology Molecular function • oxidoreductase activity, acting on the CH-CH group of donors • sterol 5-alpha reductase activity • cholestenone 5-alpha-reductase activity • amide binding • oxidoreductase activity • 3-oxo-5-alpha-steroid 4-dehydrogenase activity • testosterone dehydrogenase [NAD(P) activity] Cellular component • cytoplasm • organelle membrane • integral component of membrane • membrane • cell body fiber • intracellular membrane-bounded organelle • neuronal cell body • endoplasmic reticulum • endoplasmic reticulum membrane Biological process • cell differentiation • male gonad development • phthalate metabolic process • biphenyl metabolic process • response to organic cyclic compound • lipid metabolism • response to testosterone • response to steroid hormone • cell-cell signaling • response to peptide hormone • sex differentiation • response to organic substance • steroid catabolic process • response to nutrient levels • dibenzo-p-dioxin metabolic process • hypothalamus development • bone development • hippocampus development • oxidation-reduction process • response to follicle-stimulating hormone • response to drug • androgen metabolic process • steroid metabolic process • androgen biosynthetic process • male genitalia development • female genitalia development • progesterone metabolic process • testosterone biosynthetic process • steroid biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6716	94224
Ensembl	ENSG00000277893	ENSMUSG00000038541
UniProt	P31213	Q99N99
RefSeq (mRNA)	NM_000348	NM_053188
RefSeq (protein)	NP_000339	NP_444418
Location (UCSC)	Chr 2: 31.52 – 31.58 Mb	n/a
PubMed search	[2]	[3]
Wikidata
View/Edit Human View/Edit Mouse

Steroid 5α-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).[5]

See also

• 5α-Reductase

References

1. GRCh38: Ensembl release 89: ENSG00000277893 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. "Entrez Gene: SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)".

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/en.131.3.1571. 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. 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/jc.81.5.1730. 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/jc.81.8.2821. 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/jc.83.2.560. 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/jc.83.9.3236. 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/en.140.6.2891. 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/jc.85.9.3147. 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. 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.