Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)

Stable Identifier
R-HSA-5619096
Type
Pathway
Species
Homo sapiens
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Human SLC5A5 encodes the Na+/I- symporter NIS which is localised in the basolateral membrane of thyrocytes facing the bloodstream where it mediates iodide accumulation into these cells. Defects in SLC5A5 can cause hyroid dyshormonogenesis 1 (TDH1; MIM:274400), a disorder characterised by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland (termed iodine trapping) leading to congenital hypothyroidism (Spitzweg & Morris 2010, Grasberger & Refetoff 2011).

Literature References
PubMed ID Title Journal Year
21543982 Genetic causes of congenital hypothyroidism due to dyshormonogenesis

Grasberger, H, Refetoff, S

Curr. Opin. Pediatr. 2011
20153805 Genetics and phenomics of hypothyroidism and goiter due to NIS mutations

Spitzweg, C, Morris, JC

Mol. Cell. Endocrinol. 2010
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital hypothyroidism 0050328 cretinism
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