检测编号：NS0210043

基因 PAX8 与疾病

PAX8基因属于PAX基因家族，在组织和胚胎发育过程中起至关重要的作用。在胎儿出生后，PAX家族对于维持一些细胞基本功能也具有重要作用。PAX在胚胎发育过程中激活肾脏和甲状腺的形成和发育，出生后PAX8蛋白调节若干个基因，参与甲状腺激素的产生。已发现若干个突变，一些突变导致先天性甲低，也有一些只是少量影响甲状腺激素生成。

基因名称	基因全名	基因位置	外显子个数	CDS长度
PAX8	paired box 8	2q13	12	约3976 bp
基因摘要	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].