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MGP002864

UniProt Annotations

Entry Information

Gene Name	solute carrier family 5 (sodium/iodide cotransporter), member 5
Protein Entry	SC5A5_HUMAN
UniProt ID	Q92911
Species	Human

Comments

Comment type	Description
Disease	Thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]: A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. {ECO:0000269\|PubMed:10487695, ECO:0000269\|PubMed:9171822, ECO:0000269\|PubMed:9486973, ECO:0000269\|PubMed:9745458}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Mediates iodide uptake in the thyroid gland.
Similarity	Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. {ECO:0000305}.
Subcellular Location	Membrane; Multi-pass membrane protein.
Tissue Specificity	Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. {ECO:0000269\|PubMed:8806637, ECO:0000269\|PubMed:9329364}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SLC5A5ID44476ch19p13.html";