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Literature summary extracted from

  • Tiosano, D.; Knopf, C.; Koren, I.; Levanon, N.; Hartmann, M.F.; Hochberg, Z.; Wudy, S.A.
    Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity (2008), Eur. J. Endocrinol., 158, 385-392.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.14.14.19 DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, genotyping Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.19 E305G naturally occuring mutation, the active site mutant shows lack of 17,20-lyase activity and reduced 17alpha-hydroxylase activity compared to the wild-type, males homozygous show a phenotype with severe micropenis, perineal hypospadias, chordae, and bifid scrotum, while females show normal genitalia, genotyping of two families, overview Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.19 additional information the bifunctional enzyme also exhibits 17,20-lyase activity converting 17alpha-hydroxypregnenolone to dehydroepiandrosterone-S, EC 4.1.2.30, overview Homo sapiens ?
-
 ?
1.14.14.19 pregnenolone + AH2 + O2
-
 Homo sapiens 17alpha-hydroxypregnenolone + A + H2O
-
 ?
1.14.14.19 progesterone + AH2 + O2
-
 Homo sapiens 17alpha-hydroxyprogesterone + A + H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.14.19 17alpha-hydroxylase
-
 Homo sapiens
1.14.14.19 CYP17A1
-
 Homo sapiens