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Slc26a4

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Slc26a4

Solute carrier family 26, member 4
Identifiers
SLC26A4 Gene
RNA expression pattern

Pendrin, also known as sodium-independent chloride/iodide transporter, is a protein that in humans is encoded by the SLC26A4 gene (solute carrier family 26, member 4).[1][2] Pendrin is the protein which is mutated in pendred syndrome, which is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter and a partial organification problem detectable by a positive perchlorate test.[3]

By phylogenetic analysis, pendrin has been found to be a close relative of prestin present on the hair cells or organ of corti in the inner ear. Prestin is primarily an electromechanical transducer but pendrin is an ion transporter.

Function

Pendrin is an ion exchanger found in many types of cells in the body. For example it is found in the cortical collecting duct lining cells in the kidney.[4]


Pendrin is found at the apical (luminal) membrane of follicular cells in the thyroid gland. It transports iodine from the cytoplasm to the follicle lumen. Its activity is necessary for production of thyroid hormone.

Pendrin is also found in the cells of the inner ear, where its function is not well understood.

Clinical significance

Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. Pendred syndrome is also characterized by hypothyroidism. SLC26A4 is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters.[1]

Another little-understood role of pendrin is in airway hyperreactivity and inflammation, as during asthma attacks and allergic reactions. Expression of pendrin in the lung increases in response to allergens and high concentrations of IL-13,[5][6] and overexpression of pendrin results in airway inflammation, hyperreactivity, and increased mucus production.[7][8] These symptoms could result from pendrin's effects on ion concentration in the airway surface liquid, possibly causing the liquid to be less hydrated.[9]

References

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
  • Description at oto.wustl.edu
  • Medical Subject Headings (MeSH)


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