LHFPL3 (gene)

LHFPL3 (Lipoma HMGIC Fusion Partner-Like 3) is a gene that encodes a protein in humans. It is also known as Tetraspan Membrane Protein of Hair Cell Stereocilia and is involved in the development and maintenance of the auditory system.

Function

The LHFPL3 gene is part of the LHFPL (Lipoma HMGIC Fusion Partner-Like) gene family. This family of genes is known to play a crucial role in the development and function of the auditory system. The protein encoded by the LHFPL3 gene is a tetraspan membrane protein, which is primarily found in the stereocilia of hair cells in the inner ear. Stereocilia are tiny, hair-like structures that are responsible for converting sound vibrations into electrical signals that can be interpreted by the brain.

Clinical Significance

Mutations in the LHFPL3 gene have been associated with hearing loss. A study published in the American Journal of Human Genetics found that a mutation in this gene was responsible for autosomal recessive non-syndromic hearing loss in a family from Pakistan. Further research is needed to fully understand the role of LHFPL3 in hearing and how mutations in this gene lead to hearing loss.

See Also

• Gene
• Auditory system
• Hearing loss
• Stereocilia

References

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