检测编号：NA0210007

基因 DUOX2 与疾病

DUOX2编码双氧化酶2，存在于甲状腺、唾液腺、消化道和呼吸道，双氧化酶2帮助产生过氧化氢。在甲状腺激素生成过程中，过氧化氢是最后一步。已发现若干突变位点与先天性甲低有关，这些突变导致过氧化氢生成减少。没有足够的过氧化氢，甲状腺激素生产中断。

基因名称	基因全名	基因位置	外显子个数	CDS长度
DUOX2	dual oxidase 2	15q15.3	34	约6346 bp
基因摘要	The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008].

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].

基因 SLC5A5 与疾病

SLCA5基因编码钠碘转运体NIS，是溶质载体家族一员。存在于甲状腺中，作用是运输碘离子，已发现若干突变，约半数为缺失突变，另一些是点突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
SLC5A5	solute carrier family 5 (sodium iodide symporter), member 5	19p13.11	15	约3576 bp
基因摘要	This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009].

基因 TG 与疾病

TG编码甲状腺球蛋白，甲状腺球蛋白与碘离子结合后改性分解，释放出甲状腺激素。甲状腺球蛋白也作为碘储存库和甲状腺激素储存库，在需要的时候释放甲状腺激素。已发现若干个突变，导致甲状腺球蛋白合成错误，形成严重的先天性甲低。

基因名称	基因全名	基因位置	外显子个数	CDS长度
TG	thyroglobulin	8q24	48	约8453 bp
基因摘要	Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009].

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].

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].

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].