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Literature summary for 1.14.14.32 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

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

Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
peripheral blood peripheral blood leukocyte Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

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