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  • Human SRD5A2 wild-type allele is located within 2p23 and is approximately 56 kb in length. This allele, which encodes 3-oxo-5-alpha-steroid 4-dehydrogenase 2 protein, plays a role in the oxidation of androgens into their corresponding 5-alpha-3-oxosteroids. Specific heritable defects in the SRD5A2 gene are the cause of pseudovaginal perineoscrotal hypospadias. A specific allelic variant of this gene is associated with an increased risk of prostate cancer.
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