Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol

Stable Identifier
Reaction [transition]
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. Mutations in SLC5A5 that can cause TDH1 include T354P, V59E, G395R, C272*, G93R and R124H (Fujiwara et al. 1997, Pohlenz et al. 1997, Kosugi et al. 1998, 1999).

Literature References
PubMed ID Title Journal Year
9171822 Congenital hypothyroidism caused by a mutation in the Na+/I- symporter

Tatsumi, K, Harada, T, Takai, S, Miyai, K, Amino, N, Fujiwara, H, Miki, K

Nat Genet 1997
10487695 A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect

Dean, HJ, Bhayana, S, Kosugi, S

J. Clin. Endocrinol. Metab. 1999
9745458 Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients

Jhiang, SM, Matsuda, A, Kosugi, S, Inoue, S

J. Clin. Endocrinol. Metab. 1998
9388506 Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene

Gross, JL, Pohlenz, J, Refetoff, S, Medeiros-Neto, G, Knobel, M, Silveiro, SP

Biochem. Biophys. Res. Commun. 1997
Catalyst Activity

sodium:iodide symporter activity of SLC5A5 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC5A5 mutants [plasma membrane]

Name Identifier Synonyms
congenital hypothyroidism DOID:0050328 cretinism
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