Gene: SRD5A2

Alternate names for this Gene: -

Gene Summary: 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).

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.1

Description of this Gene: steroid 5 alpha-reductase 2

Type of Gene: protein-coding

rs191212334 in SRD5A2 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs9282858 in SRD5A2 gene and Alopecia, Androgenetic, 1 PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs9282858 in SRD5A2 gene and Alopecia, Androgenetic, 2 PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs9282858 in SRD5A2 gene and Alopecia, Androgenetic, 3 PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs9282858 in SRD5A2 gene and Alopecia, Male Pattern PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs9282858 in SRD5A2 gene and Androgenetic Alopecia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs2268797 in SRD5A2 gene and C-reactive protein measurement PMID 24182552 2014 Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.

rs518600 in SRD5A2 gene and Interleukin 18 Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs9282858 in SRD5A2 gene and Other alopecia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs121434244 in SRD5A2 gene and Pseudovaginal Perineoscrotal Hypospadias PMID 10898110 2000 Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.

PMID 16098368 2005 A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

PMID 9843052 1998 Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

PMID 7554313 1995 A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency.

PMID 16181229 2005 SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

PMID 9208814 1997 Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).

PMID 10718838 2000 Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.

PMID 1522235 1992 Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

PMID 15528927 2004 Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.

PMID 12843198 2003 Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.

PMID 20190539 2010 Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.

PMID 835597 1977 Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency.

PMID 1406794 1992 Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred.

PMID 19492581 2009 Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.

PMID 10999800 2000 Uniparental disomy in steroid 5alpha-reductase 2 deficiency.

PMID 8768837 1996 Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.

PMID 15770495 2005 New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

PMID 9745434 1998 Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

PMID 26446026 2016 Homozygous p.R246Q Mutation and Impaired Spermatogenesis: Long Term Follow-up of 4 Children from One Family with 5 Alpha Reductase 2 Deficiency.

PMID 8110760 1994 Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

PMID 20493473 2010 Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.

PMID 15064320 2004 Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.

PMID 8626825 1996 5 alpha-reductase-2 gene mutations in the Dominican Republic.

PMID 27070133 2016 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

PMID 21402750 2011 Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

PMID 9066886 1997 Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme.

PMID 8784107 1996 Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency.

PMID 23633205 2013 Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.

PMID 8723114 1996 Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency.

PMID 28544750 2017 Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency.

PMID 7608269 1995 Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.

PMID 8706317 1996 Steroid 5 alpha-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme.

PMID 27899157 2016 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

PMID 22876553 2012 The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.

PMID 11869378 2002 A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency.

PMID 21631525 2011 SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

PMID 8262007 1993 Steroid 5 alpha-reductase 2 deficiency.

PMID 22272144 2011 Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.

PMID 1944596 1991 Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.

PMID 17609295 2008 Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

PMID 20019388 2011 Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.

PMID 18314109 2008 Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

PMID 12576851 2003 Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency.

PMID 21540559 2011 A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.

PMID 25899528 2015 Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.

PMID 2154055 1990 Tension leads to increased neutrophil accumulation and decreased laparotomy wound strength.

PMID 9135696 1997 Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency.

PMID 21147889 2011 Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

PMID 23329752 2012 Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.

PMID 19342739 2009 Diagnosis of 5alpha-reductase 2 deficiency: a local experience.

PMID 15266301 2004 Mutation analysis of five candidate genes in Chinese patients with hypospadias.

PMID 24665940 2014 Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.

PMID 22453073 2012 A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.

PMID 20736251 2011 Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.

PMID 25605705 2015 Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.

PMID 14594182 2004 Steroid 5alpha-reductase 2 deficiency in two generations of a non-consanguineous Chinese family.