Pendrin

Pendrin is a protein that in humans is encoded by the SLC26A4 gene. It is an anion transporter protein that is primarily found in the thyroid gland, kidney, and inner ear. Mutations in the SLC26A4 gene can lead to Pendred syndrome and non-syndromic sensorineural hearing loss.

Function

Pendrin is a member of the solute carrier family 26 (SLC26) and functions as an anion exchanger. It is involved in the transport of chloride, iodide, bicarbonate, and sulfate across cell membranes. In the thyroid gland, pendrin is involved in the iodination of thyroglobulin, a critical step in the synthesis of thyroid hormones. In the inner ear, it is involved in the regulation of endolymph fluid composition and volume, which is essential for normal hearing.

Clinical significance

Mutations in the SLC26A4 gene that encodes pendrin can lead to two types of hearing loss: Pendred syndrome and non-syndromic sensorineural hearing loss. Pendred syndrome is characterized by sensorineural hearing loss, goiter, and sometimes abnormalities in the inner ear such as enlarged vestibular aqueducts. Non-syndromic sensorineural hearing loss is characterized by hearing loss without any other symptoms.

See also

• Pendred syndrome
• SLC26A4
• Anion transporter
• Sensorineural hearing loss

References

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