LHFPL5
Description
The LHFPL5 (LHFPL tetraspan subfamily member 5) is a protein-coding gene located on chromosome 6.
Lipoma HMGIC fusion partner-like 5 (LHFPL5) is a protein encoded by the LHFPL5 gene in humans. It belongs to the lipoma HMGIC fusion partner (LHFP) gene family, a subset of the tetraspan transmembrane protein encoding gene superfamily. Mutations in this gene are associated with deafness in humans. A similar gene mutation in mice leads to deafness and vestibular dysfunction, characterized by severe degeneration of the organ of Corti. LHFPL5 is thought to play a role in hair bundle morphogenesis.
In the inner ear, LHFPL5 may play a crucial role in the hair cell's mechanotransduction machinery, acting as a link between PCDH15 and the transduction channel. It influences the conductance of the transducer channel and is essential for swift channel adaptation.
LHFPL5 is also known as DFNB67, TMHS, dJ510O8.8.
