Primary congenital hypothyroidism（先天性甲状腺功能低下） |
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检测编号：NS0210048
基因 TSHR 与疾病
THSR指导合成促甲状腺激素（TSH）受体，与TSH结合。该受体跨越甲状腺滤膜细胞的细胞膜，很大一部分位于细胞的外表面，一小部分在细胞的内表面。已发现若干个突变位点，突变导致跨膜受体无法跨膜，被保留在细胞内部，受检者对甲状腺激素刺激不敏感，一些病例发展成先天性甲状腺功能减退症。
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 |
CDS长度 |
| TSHR |
thyroid stimulating hormone receptor |
14q31 |
10 |
约4400 bp |
| 基因摘要 |
The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. |