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Literature summary for 1.3.99.5 extracted from

  • Ko, J.M.; Cheon, C.-K.; Kim, G.-H.; Kim, S.H.; Kim, K.S.; Yoo, H.-W.
    Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency (2010), Horm. Res. Paediatr., 73, 41-48.
    View publication on PubMed
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Cloned(Commentary)

Cloned (Comment) Organism
gene SRD5A2, DNA and amino acid sequence analysis in 6 Korean patients with 5alpha-reductase type 2 deficiency, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
G203S naturally occuring mutation of SRD5A2 involved in the SRD deficiency syndrome Homo sapiens
additional information detection of mutations of gene SRD5A2 of Korean SRD deficiency patients: p.Q6X located in exon 1, p.G203S and c.655delT both located in exon 4, and p.R246Q located in exon 5, which is the most frequently identified mutation, and c.655delT specifically found in Korean patients, overview. 5alpha-Reductase type 2 deficiency, caused by mutations in the SRD5A2 gene, leads to an autosomal recessive disorder of sex differentiation, DSD, in 46,XY individuals. The phenotypes of newborn 46,XY DSD with partial androgen insensitivity syndrome or 17beta-hydroxysteroid dehydrogenase deficiency may be indistinguishable from the phenotype of 5alpha-reductase type 2 deficiency Homo sapiens
R246Q frequent naturally occuring mutation of SRD5A2 involved in the SRD deficiency syndrome Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P31213 gene SRD5A2; gene SRD5A2
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Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
5alpha-reductase type 2
-
 Homo sapiens

General Information

General Information Comment Organism
physiological function Korean patients with SRD5A2 deficiency show external genitalia ranging from predominantly female to male, phenotype overview Homo sapiens