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Literature summary 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

EC Number Protein Variants Comment Organism
1.3.1.22 A207D the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.1.22 A49T the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.1.22 C133G the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.1.22 G196S the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.1.22 G34W the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.1.22 W53X the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.1.22 Y235F the mutation is associated with 5alpha-reductase type 2 deficiency Homo sapiens
1.3.99.5 A207D the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
1.3.99.5 C133G the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
1.3.99.5 G196S the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
1.3.99.5 G34W the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
1.3.99.5 W53X the nonsense mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens
1.3.99.5 Y235F the mutation is associated with the occurrence of steroid 5alpha-reductase deficiency Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
1.3.1.22 Homo sapiens
-
-
-
1.3.99.5 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.99.5 blood
-
 Homo sapiens
-
1.3.99.5 leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
1.3.1.22 5alphaR type 2
-
 Homo sapiens
1.3.1.22 SRD5A2
-
 Homo sapiens
1.3.1.22 steroid 5alpha reductase type 2
-
 Homo sapiens
1.3.99.5 5alpha-R
-
 Homo sapiens
1.3.99.5 steroid 5alpha-reductase type 2
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.1.22 NADPH
-
 Homo sapiens