检测编号：NS0210046

基因 TPO 与疾病

TPO编码甲状腺过氧化酶，能将碘离子结合到甲状腺球蛋白上，在甲状腺生成过程中起重要作用。已发现30多种突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
TPO	thyroid peroxidase	2p25	15	约2537 bp
基因摘要	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011].