PAX8 —— 配对盒8

PAX8

配对盒8

paired box 8

该基因编码成对盒（PAX）转录因子家族的成员。该基因家族的成员通常编码包含配对盒结构域，八肽和配对型同源域的蛋白质。该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。该基因的突变与甲状腺发育不全，甲状腺滤泡癌和非典型滤泡性甲状腺腺瘤有关。已经描述了编码不同同工型的选择性剪接的转录变体。[由RefSeq提供，2010年3月]

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. [provided by RefSeq, Mar 2010]