~A Boy Always Young~

2015年3月9日 星期一

Pendred syndrome



Pendred syndrome is characterized by both goiter and sensorineural deafness (not caused by hypothyroidism). It is caused by a biallelic mutation in the SLC26A4 gene, located on chromosome 7 (7q31). Pendrin, a multifunctional anion exchanger, functions in both the thyroid gland and inner ear.

In the apical membrane of the thyroid gland, pendrin facilitates transport of iodide into the exocytic vesicles in which thyroid hormone is synthesized.

Pendrin is also expressed in the inner ear and is important for normal endolymph composition and maintenance of the endocochlear potential.

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