Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0162871 (
abdominal aortic aneurysm
)
8,664
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The enzyme
steroid 5 alpha-reductase
, via NADPH, catalyses the conversion of testosterone to dihydrotestosterone, which is required for the embryonic differentiation of the external male genitalia and the prostate. An impairment of this reaction causes a form of male pseudohermaphroditism in which genetic males differentiate predominantly as phenotypic females. Molecular analysis of the 5 alpha-reductase type 2 gene in a patient with confirmed biochemical 5 alpha-reductase deficiency has resulted in the identification of a novel mutation, GAA to
AAA
, at codon 200. This mutation produces an amino acid change from glutamic acid to lysine, and may affect the ability of the enzyme to bind its co-factor.
...
PMID:Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2). 920 14
