Literature summary for 1.3.1.22 extracted from

Walter, K.N.; Kienzle, F.B.; Frankenschmidt, A.; Hiort, O.; Wudy, S.A.; van der Werf-Grohmann, N.; Superti-Furga, A.; Schwab, K.O.
Difficulties in diagnosis and treatment of 5 alpha-reductase type 2 deficiency in a newborn with 46,XY DSD (2010), Horm. Res. Paediatr., 74, 67-71.

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Protein Variants

Protein Variants	Comment	Organism
L55Q	the naturally occuring homozygote point mutation causes SRD5A2 deficiency and leads to leading to an impaired conversion of testosterone to 5alpha-dihydrotestosterone, and thus to predominantly female phenotype at 3 days of age with ambiguous external genitalia: testes palpable in the extended labia resembling a scrotum bipartitum, micropenis with hypospadias and lack of an introitus vaginae but a perineal dimple in accordance with steroid 5alpha-reductase deficiency type III	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P31213	gene SRD5A2; gene SRD5A2	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
skin	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
5alpha-reductase type 2	-	Homo sapiens
SRD5A2	-	Homo sapiens

General Information

General Information	Comment	Organism
additional information	mutations of the SRD5A2 gene, e.g. Leu55Gln, cause 5alpha-reductase type 2 deficiency and masculinization defects of varying degree as a result of a prenatal lack of 5alpha-dihydrotestosterone to predominantly female phenotype newborn patient, detailed overview	Homo sapiens
physiological function	conversion of testosterone to 5alpha-dihydrotestosterone is essential for correct development of genetalia, overview	Homo sapiens

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Release 2023.1 (January 2023)