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Literature summary for 1.14.14.32 extracted from

  • Katsumata, N.; Ogawa, E.; Fujiwara, I.; Fujikura, K.
    Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency (2009), Metab. Clin. Exp., 59, 275-278.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
DELTAF54 partially reduces enzymatic activities Homo sapiens
H373N mutation almost completely eliminates enzymatic activities Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

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

General Information

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