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  • Human HSD3B2 wild-type allele is located in the vicinity of 1p13.1 and is approximately 8 kb in length. This allele, which encodes 3 beta-hydroxysteroid dehydrogenase/delta 5->4-isomerase type 2 protein, is involved in the oxidative conversion of ketosteroids during the biosynthesis of hormonal steroids. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency.
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