LHFPL5

LHFPL5 (Lipoma HMGIC Fusion Partner-Like 5), also known as TMHS (Tetraspan Membrane Protein of Hair Cell Stereocilia), is a protein that in humans is encoded by the LHFPL5 gene. It is a crucial component of the mechanotransduction machinery in the inner ear's hair cells, which are responsible for hearing and balance.

Function

LHFPL5 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a group of genes associated with the formation of lipomas. However, in the context of the inner ear, LHFPL5 plays a vital role in the development and function of hair cells. These cells convert mechanical stimuli, such as sound waves and head movements, into electrical signals that the brain can interpret. LHFPL5 is a part of the complex that forms the tip link, a structure that is essential for the mechanotransduction process.

Clinical Significance

Mutations in the LHFPL5 gene can lead to nonsyndromic deafness, specifically DFNB67, a form of autosomal recessive nonsyndromic deafness. This condition is characterized by moderate to profound, prelingual, non-progressive sensorineural hearing loss. Individuals with DFNB67 do not have vestibular dysfunction or any other clinical symptoms.

Research

Research on LHFPL5 is ongoing, with studies focusing on understanding the precise role of this protein in the mechanotransduction process and how mutations in the LHFPL5 gene lead to hearing loss. This research could potentially lead to new treatments for hearing loss and balance disorders.

See Also

• Mechanotransduction
• Inner ear
• Nonsyndromic deafness
• Lipoma