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Literature summary for 1.3.1.22 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 5alpha-reductase type 2 deficiency Homo sapiens
A49T the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
C133G the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
G196S the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
G34W the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
W53X the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
Y235F the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
testosterone + NADPH + H+ Homo sapiens
-
5alpha-dihydrotestosterone + NADP+
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
testosterone + NADPH + H+
-
Homo sapiens 5alpha-dihydrotestosterone + NADP+
-
?

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
NADPH
-
Homo sapiens