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Literature summary extracted from

  • Rosa, S.; Steigert, M.; Lang-Muritano, M.; lAllemand, D.; Schoenle, E.J.; Biason-Lauber, A.
    Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency (2010), Horm. Res. Paediatr., 73, 198-204.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.14.32 wild-type or mutant CYP17A1 cDNA, after addition of an N-terminal myc-tag, inserted into a pcDNA3.1 vector, transiently transfected into confluent COS-1 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.32 A355T shows a complete loss of enzymatic activity. Is expressed in transfected COS-1 cells in a fashion comparable to the wild-type protein. Less severely affected patient with ambiguous genitalia Homo sapiens
1.14.14.32 G111S shows a complete loss of enzymatic activity. Is expressed in transfected COS-1 cells in a fashion comparable to the wild-type protein. Leads to complete lack of masculinization in the patient Homo sapiens
1.14.14.32 I332T retains some residual 17,20-lyase activity (10%). Is expressed in transfected COS-1 cells in a fashion comparable to the wild-type protein. Less severely affected patient with ambiguous genitalia Homo sapiens
1.14.14.32 R440H shows a complete loss of enzymatic activity. Leads to complete lack of masculinization in the patient Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.14.14.32 0.00027
-
 17alpha-hydroxypregnenolone wild-type Homo sapiens
1.14.14.32 0.00039
-
 17alpha-hydroxypregnenolone mutant I332T Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.14.14.32 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.32 17alpha-Hydroxypregnenolone
-
 Homo sapiens Dehydroepiandrosterone + acetaldehyde
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.14.32 17alpha-hydroxylase/17,20-lyase
-
 Homo sapiens
1.14.14.32 CYP17A1
-
 Homo sapiens
1.14.14.32 P450c17
-
 Homo sapiens

Turnover Number [1/s]

EC Number Turnover Number Minimum [1/s] Turnover Number Maximum [1/s] Substrate Comment Organism Structure
1.14.14.32 10
-
 17alpha-hydroxypregnenolone mutant I332T Homo sapiens
1.14.14.32 128
-
 17alpha-hydroxypregnenolone wild-type Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.14.32 malfunction 17alpha-hydroxylase/17,20-lyase deficiency can lead to complete lack of masculinization and to ambiguous genitalia Homo sapiens