菜单 基因医生

该基因编码转录因子成对盒（PAX）家族的一个成员。这个基因家族的成员通常编码包含成对盒结构域、八肽和成对型同源结构域的蛋白质。这种核蛋白参与甲状腺滤泡细胞的发育和甲状腺特异性基因的表达。该基因突变与甲状腺发育不全、甲状腺滤泡癌和非典型甲状腺滤泡腺瘤有关。另外，还描述了编码不同亚型的剪接转录变体。
This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described.