STRC

From WikiMD's medical encyclopedia

STRC (short for Stereocilin) is a protein that in humans is encoded by the STRC gene. It is located on chromosome 15 and is involved in the function of the inner ear, specifically in the hair cells that detect sound waves and help translate them into nerve signals. Mutations in this gene can lead to deafness.

Function

STRC is a member of the stereocilin family and is expressed in the hair cells of the cochlea. The protein encoded by this gene is thought to be involved in the development and maintenance of the inner ear's stereocilia, which are crucial for normal hearing. Stereocilia are the hair-like structures on the surface of hair cells in the inner ear that are responsible for converting sound vibrations into electrical signals.

Clinical significance

Mutations in the STRC gene have been associated with both autosomal recessive and autosomal dominant forms of deafness. The most common form of deafness associated with mutations in this gene is DFNB16, a form of non-syndromic hearing loss. Non-syndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In most cases, the cause of non-syndromic hearing loss is genetic.

See also

References


External links

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