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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/12 21:38:54」(JST)

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3-oxo-5-alpha-steroid 4-dehydrogenase 2 is an enzyme that in humans is encoded by the SRD5A2 gene.^[1]^[2]

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).^[2]

References

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

UpToDate Contents

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1. ステロイド5 -α-レダクターゼ2欠乏症 steroid 5 alpha reductase 2 deficiency
2. 副腎ステロイドの代謝 metabolism of adrenal steroids

English Journal

Titanium dioxide nanoparticle-induced testicular damage, spermatogenesis suppression, and gene expression alterations in male mice.

Gao G, Ze Y, Zhao X, Sang X, Zheng L, Ze X, Gui S, Sheng L, Sun Q, Hong J, Yu X, Wang L, Hong F, Zhang X.SourceMedical College of Soochow University, Suzhou 215123, China.
Journal of hazardous materials.J Hazard Mater.2013 Aug 15;258-259:133-43. doi: 10.1016/j.jhazmat.2013.04.046. Epub 2013 May 6.
Although titanium dioxide nanoparticles (TiO2 NPs) have been demonstrated to accumulate in organs resulting in toxicity, there is currently only limited data regarding male reproductive toxicity by TiO2 NPs. In this study, testicular damage and alterations in gene expression profiles in male mice in
PMID 23721730

Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases.

Chan AO.SourceDivision of Clinical Biochemistry, Queen Mary Hospital, Hong Kong Special Administrative Region. Electronic address: cok436@ha.org.hk.
Steroids.Steroids.2013 Jul;78(7):726-30. doi: 10.1016/j.steroids.2013.04.002. Epub 2013 Apr 17.
BACKGROUND: Unclassified genetic variants are commonly encountered in molecular diagnostic service. In silico analyses using web-based predictive programs may provide information on the nature of the genetic variants, and help to prioritize novel variants for in vitro functional characterization. Th
PMID 23603282

Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.

Fénichel P, Paris F, Philibert P, Hiéronimus S, Gaspari L, Kurzenne JY, Chevallier P, Bermon S, Chevalier N, Sultan C.SourceMD, PhD, Researcher, Institut National de la Santé et de la Recherche Médicale and Nice University Department of Endocrinology, 06200 Nice, France. fenichel.p@chu-nice.fr.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2013 Jun;98(6):E1055-9. doi: 10.1210/jc.2012-3893. Epub 2013 Apr 30.
Context: Although a rare occurrence, previously undiagnosed disorders of sex development (DSD) with hyperandrogenism are sometimes detected by hormonal screening during the international sports competitions. Identifying the cause of XY,DSD raises medical and ethical concerns, especially with regard
PMID 23633205

Japanese Journal

Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia

Vilchis Felipe,Valdez Evangelina,Ramos Luis [他],GARCIA Rocio,GOMEZ Rita,CHAVEZ Bertha
Journal of human genetics 53(5), 401-406, 2008-05-01
NAID 10021248793

Mutational Analysis of Androgen Receptor (AR) Gene in 46, XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion : Endocrinological Characteristics of Three Patients with AR Gene Mutations

Miyamoto Junko,Asanuma Hiroshi,Nakai Hideo,Hasegawa Tomonobu,Nawata Hajime,Hasegawa Yukihiro
Clinical pediatric endocrinology 15(4), 151-162, 2006-10
NAID 110006794334

Genotype Frequencies of 50 Polymorphisms for 241 Japanese Non-cancer Patients

HAMAJIMA Nobuyuki,SAITO Toshiko,MATSUO Keitaro,SUZUKI Takashi,NAKAMURA Tsuneya,MATSUURA Akio,OKUMA Katashi,TAJIMA Kazuo
Journal of epidemiology 12(3), 229-236, 2002-05
… MPO, MTR, MTHFR, MAO-A, NQO1, OGG1, p53, p73, Se, SRD5A2, TGF-B, TNF-A, TNF-B, XPD, and XRCC1)and 6 sets of combined genotype frequencies for 241 non-cancer Japanese outpatients.Though the genotype frequencies of 25 polymorphisms have already been reported in our previous papers, 15 polymorphisms(CD36 A52C, CXCR2 C785T, CCND1 G870A, IGF1 C/T at intron 2 and G2502T, IL-1A 46-bp VNTR, IL1R1 C-1 16T, IL-6 Ins/Del 17C, IL-8 A-278T and C74T, IL10 T-819C, LEP A-2548G, SRD5A2 2bp VNTR, XPD Lys751GIn, and XRCC1 Arg399Gln)and six …
NAID 130000797578

Related Pictures

PBB GE SRD5A2 206938 at tn.png Protein data - SRD5A2: 5-alpha-reductase detection of WT1, LHR,17βHSD3 and SRD5A2 FIGURE 411-3 The biochemical pathway in : Image:PBB_GE_SRD5A2_206938_at_fs.png SRD5A2: 5-alpha-reductase type 2 and Male SRD5A2 reduce the mice serum srd5a2 concentration

★リンクテーブル★

リンク元	「テストステロン5α還元酵素」「testosterone 5alpha-reductase」

「テストステロン5α還元酵素」

Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
Identifiers
Symbols	SRD5A2 ; MGC138457
External IDs	OMIM: 607306 MGI: 2150380 HomoloGene: 37292 ChEMBL: 1856 GeneCards: SRD5A2 Gene
EC number	1.3.1.22
Gene ontology
Molecular function	• 3-oxo-5-alpha-steroid 4-dehydrogenase activity; • sterol 5-alpha reductase activity; • amide binding; • cholestenone 5-alpha-reductase activity;
Cellular component	• endoplasmic reticulum membrane; • integral component of membrane; • neuronal cell body; • cell body fiber;
Biological process	• androgen biosynthetic process; • steroid catabolic process; • cell-cell signaling; • steroid metabolic process; • androgen metabolic process; • male gonad development; • biphenyl metabolic process; • dibenzo-p-dioxin metabolic process; • phthalate metabolic process; • hippocampus development; • hypothalamus development; • cell differentiation; • male genitalia development; • female genitalia development; • response to nutrient levels; • response to follicle-stimulating hormone; • response to testosterone; • response to drug; • response to peptide hormone; • small molecule metabolic process; • oxidation-reduction process; • bone development;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
	v; t; e;