Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.

@article{Tiosano2008MetabolicEF,
  title={Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity.},
  author={Dov Tiosano and Carlos Knopf and Ilana Zalmon Koren and Nurit Levanon and Michaela F. Hartmann and Ze’ev Hochberg and Stefan Alexander Wudy},
  journal={European journal of endocrinology},
  year={2008},
  volume={158 3},
  pages={
          385-92
        }
}
CONTEXT The CYP17A1 gene encodes many enzymatic reactions including 17alpha-hydroxylase and 17,20-lyase activities. Mutations that selectively ablate the 17,20-lyase activity, causing isolated 17,20-lyase deficiency, are exceedingly rare and may belong to the rarest of all disorders of steroidogenesis. We have previously reported an E305G mutation in the active site of CYP17A1 that apparently causes isolated 17,20-lyase deficiency. Expression studies suggested intact 17alpha-hydroxylase… CONTINUE READING
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