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  • Human CYP17A1 wild-type allele is located in the vicinity of 10q24.3 and is approximately 7 kb in length. This allele, which encodes cytochrome P450 17A1 protein, plays a role in the synthesis of progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Functional mutations in the CYP17A1 gene typically result in 17-alpha-hydroxylase deficiency which, in turn, causes adrenal hyperplasia.
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