Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.3.99.5 extracted from

  • Baldinotti, F.; Majore, S.; Fogli, A.; Marrocco, G.; Ghirri, P.; Vuerich, M.; Tumini, S.; Boscherini, B.; Vetri, M.; Scommegna, S.; Rinaldi, R.; Simi, P.; Grammatico, P.
    Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency (2008), J. Androl., 29, 20-28.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
A207D the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
C133G the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
G196S the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
G34W the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
W53X the nonsense mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
Y235F the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-
leukocyte
-
Homo sapiens
-

Synonyms

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