基因名称(Gene Name)
SLC5A5 NIS
蛋白名称
Sodium/iodide cotransporter (Na(+)/I(-) cotransporter) (Sodium-iodide symporter) (Na(+)/I(-) symporter) (Solute carrier family 5 member 5)
免疫原
Synthesized peptide derived from part region of human protein
特异性
SC5A5 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
disease:Defects in SLC5A5 are the cause of congenital hypothyroidism due to dyshormonogenesis type 1 (CHDH1) [MIM:274400]. CHDH1 is characterized by an inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.,function:Mediates iodide uptake in the thyroid gland.,similarity:Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.,tissue specificity:Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors.,
