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Literature summary for 1.14.14.32 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
Search for more literature for 1.14.14.32

Cloned(Commentary)

Cloned (Comment) Organism
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

Protein Variants Comment Organism
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
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
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
R440H shows a complete loss of enzymatic activity. Leads to complete lack of masculinization in the patient Homo sapiens

KM Value [mM]

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

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

Turnover Number [1/s]

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

General Information

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