SRD5A2基因编码的功能和结构描述
该基因编码一种在雄激素敏感组织（如前列腺）中高水平表达的微粒体蛋白。编码蛋白在酸性ph下具有活性，对4-氮杂类固醇抑制剂非那雄胺敏感。该基因缺陷可导致男性假两性畸形，特别是假阴道会阴尿道下裂（PPSH）。
This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH).
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