Protein Variants | Comment | Organism |
---|---|---|
DELTAF54 | partially reduces enzymatic activities | Homo sapiens |
H373N | mutation almost completely eliminates enzymatic activities | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
17alpha-hydroxylase/17,20-lyase | - |
Homo sapiens |
CYP17A1 | - |
Homo sapiens |
P450c17 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | Japanese girl having 17alpha-hydroxylase/17,20-lyase deficiency with a deletion of codon 53 or 54 encoding Phe (TTC) in exon 1 (DELTAF54) on a maternal allele and a missense mutation resulting in a substitution of Asn (AAC) for His (CAC) at codon 373 in exon 6 (H373N) on a paternal allele. These mutations inactivate both 17alpha-hydroxylase and 17,20-lyase activities | Homo sapiens |