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Literature summary for 1.14.14.19 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

Cloned(Commentary)

Cloned (Comment) Organism
gene CYP17A1, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
H373L the replacement causes complete loss of both 17alpha-hydroxylase and 17,20-lyase activities with a defect in heme binding due to a global alteration of P450c17 structure. The mutation is combined with another mutation, a deletion of codon 53 or 54 encoding Phe, TTC, in exon 1, DELTAF54, on a maternal allele. Both mutations together partially abolish both 17alpha-hydroxylase and 17,20-lyase activities. Enzyme deficiency causes clitoromegaly, phenotype, overview Homo sapiens
H373N the substitution results in markedly reduced production of 17alpha-hydroxyprogesterone at 0.2% of the wild-type P450c17 and no production of androstenedione Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
progesterone + AH2 + O2 Homo sapiens
-
17alpha-hydroxyprogesterone + A + H2O
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
progesterone + AH2 + O2
-
Homo sapiens 17alpha-hydroxyprogesterone + A + H2O
-
?

Synonyms

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