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BRENDA support

Literature summary for 1.14.14.19 extracted from

  • Brooke, A.M.; Taylor, N.F.; Shepherd, J.H.; Gore, M.E.; Ahmad, T.; Lin, L.; Rumsby, G.; Papari-Zareei, M.; Auchus, R.J.; Achermann, J.C.; Monson, J.P.
    A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency (2006), J. Clin. Endocrinol. Metab., 91, 2428-2431.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
R96Q mutation identified in a female patient with a malignant mixed germ cell tumor. Mutation affects a key substrate-binding region and results in complete inactivity of enzyme Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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female patient with a malignant mixed germ cell tumor
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