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Steroid-5-alpha-reductase, alpha polypeptide 2

SRD5A2, steroid 5 alpha-reductase 2
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). [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: 5-alpha-Reductase, HAD, MEN, AGE, CAN
Papers on SRD5A2
Epidemiological and Mendelian randomisation studies of dihydrotestosterone and estradiol, and leucocyte telomere length in men.
New
Beilby et al., Australia. In J Clin Endocrinol Metab, Feb 2016
Testosterone (T) is metabolised to dihydrotestosterone (DHT) by 5|ga-reductase (SRD5A2) and to estradiol (E2) by aromatase (CYP19A1).
Single-nucleotide polymorphism in the 5-α-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors.
New
Gietema et al., Groningen, Netherlands. In Eur J Cancer, Feb 2016
Polymorphisms in the gene encoding steroid 5-α-reductase type II (SRD5A2) are involved in altered androgen metabolism.
Novel Biomarker Signature That May Predict Aggressive Disease in African American Men With Prostate Cancer.
New
Impact
Schaeffer et al., Philadelphia, United States. In J Clin Oncol, Oct 2015
SRD5A2 (P = .023),
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
New
Karakaş Çelik et al., In J Clin Res Pediatr Endocrinol, Feb 2015
OBJECTIVE: Deficiency of steroid 5-alpha-reductase type 2 (5αRD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene.
Studies on Chromatographic Fingerprint and Fingerprinting Profile-Efficacy Relationship of Saxifraga stolonifera Meerb.
Deng et al., Guiyang, China. In Molecules, 2014
The model was evaluated by analyzing prostatic index (PI), serum acid phosphatase (ACP) activity, concentrations of serum dihydrotestosterone (DHT), prostatic acid phosphatase (PACP) and type II 5α-reductase (SRD5A2).
Expression profiles of differentially expressed genes affecting fecundity in goat ovarian tissues.
Han et al., Hefei, China. In Genet Mol Res, 2014
The FER1L4 gene showed the level of highest up-regulation in the multiparous library, while SRD5A2 expression showed the greatest down-regulation.
Genetic polymorphisms in the androgen metabolism pathway and risk of prostate cancer in low incidence Malaysian ethnic groups.
Razack et al., Kuala Lumpur, Malaysia. In Int J Clin Exp Med, 2014
We genotyped 172 Malaysian subjects for cytochrome P450 family 17 (CYP17A1), steroid-5-alpha-reductase, polypeptide 1 and 2 (SRD5A1 and SRD5A2), and insulin-like growth factor 1 (IGF-1) genes of the androgen metabolism pathway and assessed the testosterone, dihydrotestosterone and IGF-1 levels.
Steroidogenesis of the testis -- new genes and pathways.
Review
Pandey et al., Bern, Switzerland. In Ann Endocrinol (paris), 2014
Deficiency of CYP17A1 rarely causes AI, and HSD17B3 or SRD5A2 deficiencies only cause 46,XY DSD and gonadal insufficiency.
[Hereditary prostate cancer].
Review
Haus et al., Laizhou, China. In Postepy Hig Med Dosw (online), 2013
According to literature data HPC is associated with genes involved in androgen metabolism, including androgen receptor gene--AR, SRD5A2 and CYP17, genes involved in the DNA damage repair, including BRCA1, BRCA2, NBS1 and MLH1 or some developmental genes as HOXB13.
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Review
Shek et al., Hong Kong, Hong Kong. In Clin Chem, 2013
METHODS: We conducted a retrospective review of the results of urinary steroid profiling (USP) by GC-MS and mutational analysis of SRD5A2 [steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)] by PCR and direct DNA sequencing of all 46,XY DSD patients referred to our laboratory with biochemical and/or genetic findings compatible with 5ARD.
Variants in the SRD5A2 gene are associated with quality of semen.
GeneRIF
Wang et al., Nanjing, China. In Mol Med Report, 2012
The rs13395648 TC genotype was associated with a significantly lower semen volume compared with the TT genotype.
Expression of 5α-reductase in apocrine carcinoma of the breast and its correlation with clinicopathological aggressiveness.
GeneRIF
Nakanuma et al., Kanazawa, Japan. In Histopathology, 2012
The 5alphaR-positive apocrine carcinomas were clinicopathologically more aggressive than 5alphaR-negative cases.
Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified.
GeneRIF
Messenger et al., In Exp Dermatol, 2012
Based on a limited selection of gene variants, no involvement of SRD5A1, SRD5A2, ESR1, ESR2 or PGR in female pattern hair loss is evident.
Aetiology of hypospadias: a systematic review of genes and environment.
Review
Roeleveld et al., Nijmegen, Netherlands. In Hum Reprod Update, 2012
Studies screening groups of patients with hypospadias for single gene defects found mutations in WT1, SF1, BMP4, BMP7, HOXA4, HOXB6, FGF8, FGFR2, AR, HSD3B2, SRD5A2, ATF3, MAMLD1, MID1 and BNC2.
A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
GeneRIF
Tsai et al., Tainan City, Taiwan. In Kaohsiung J Med Sci, 2012
Study identiflied a novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
Steroid 5α-reductase in adult rat brain after neonatal testosterone administration.
GeneRIF
Ortega et al., Granada, Spain. In Iubmb Life, 2012
Tesosterone concentrations during postnatal sexual differentiation of the rat central nervous system, among other sex-dependent factors, influence brain levels of 5alpha-Reductase isozymes in adulthood
Inhibitors of testosterone biosynthetic and metabolic activation enzymes.
Review
Ge et al., Wenzhou, China. In Molecules, 2010
Testosterone is also metabolically activated into more potent androgen dihydrotestosterone by two isoforms 5α-reductase 1 (SRD5A1) and 2 (SRD5A2) in Leydig cells and peripheral tissues.
Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA.
Impact
Reichardt et al., United States. In Lancet, 1999
METHODS: We screened 216 African-American and 172 Hispanic men with prostate cancer, and 261 African-American and 200 Hispanic healthy men (controls), from a large prospective cohort study (the Hawaii-Los Angeles Multiethnic Cohort Study) for a mis-sense substitution in the human prostatic (or type II) steroid 5alpha-reductase (SRD5A2) gene, the product of which controls metabolic activation of testosterone to dihydrotestosterone.
Steroid 5 alpha-reductase 2 deficiency.
Review
Impact
Russell et al., Dallas, United States. In Endocr Rev, 1993
In the 20 yr since it was established that impairment of dihydrotestosterone formation is the cause of a rare form of human intersex, a wealth of information has accumulated about the genetics, endocrinology, and variable phenotypic manifestations, culminating in the cloning of cDNAs encoding two 5 alpha-reductase genes and documentation that mutations in the steroid 5 alpha-reductase 2 gene are the cause of 5 alpha-reductase deficiency.
Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.
Impact
Russell et al., Dallas, United States. In Nature, 1991
The conversion of testosterone into dihydrotestosterone by steroid 5 alpha-reductase is a key reaction in androgen action, and is essential both for the formation of the male phenotype during embryogenesis and for androgen-mediated growth of tissues such as the prostate.
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