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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P31213 | gene SRD5A2; gene SRD5A2 | - |
Source Tissue | Comment | Organism | Textmining |
---|
Synonyms | Comment | Organism |
---|---|---|
5alpha-reductase type 2 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
physiological function | Korean patients with SRD5A2 deficiency show external genitalia ranging from predominantly female to male, phenotype overview | Homo sapiens |