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
Participates
Disease
Name Identifier Synonyms
congenital hypothyroidism DOID:0050328 cretinism
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