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Literature summary extracted from

  • Bhangoo, A.; Aisenberg, J.; Chartoffe, A.; Ten, S.; Wallerstein, R.J.; Wolf, R.; Auchus, R.J.
    Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency (2008), J. Pediatr. Endocrinol. Metab., 21, 185-190.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.14.14.32 medicine partial 17alpha-hydroxylase/17,20-lyase deficiency is a very rare form of congenital adrenal hyperplasia Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.14.14.32 R358X mutant, CGA to TGA, alteration introduces premature stop codon, inactive protein Homo sapiens
1.14.14.32 Y329DEL-SUB mutant, TAC to AA, alteration introduces premature stop codon, inactive protein Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.14.32 17alpha-Hydroxypregnenolone Homo sapiens 17,20-lyase activity Dehydroepiandrosterone + acetaldehyde
-
 ?

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.14.32 peripheral blood peripheral blood leukocyte Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.32 17alpha-Hydroxypregnenolone 17,20-lyase activity Homo sapiens Dehydroepiandrosterone + acetaldehyde
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.14.32 17alpha-hydroxylase/17,20-lyase
-
 Homo sapiens
1.14.14.32 CYP17
-
 Homo sapiens
1.14.14.32 cytochrome P450c17
-
 Homo sapiens