Title : A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.

Pub. Date : 2021 Jun 16

PMID : 33912899






1 Functional Relationships(s)
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1 CONTEXT: Iodide transport defect (ITD) (Online Mendelian Inheritance in Man #274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS), causing deficient iodide accumulation in thyroid follicular cells. Sodium solute carrier family 5 member 5 Homo sapiens