Primary congenital hypothyroidism(先天性甲状腺功能低下)

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检测编号:NS0210047


基因 TSHB 与疾病

促甲状腺激素(TSH)指导甲状腺激素合成,TSH由2个亚基组成,TSHB基因指导合成β亚基,形成带状,包裹α亚基,形成有功能的激素。已发现若干种突变,使β亚基缩短,影响激素的激活。

基因名称基因全名基因位置外显子个数 CDS长度
TSHB thyroid stimulating hormone, beta 1p13 3 约537 bp
基因摘要 The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013].