检测编号：NS0210044

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].