LHFPL tetraspan subfamily member 5 protein (LHFPL5)

LHFPL tetraspan subfamily member 5 protein (LHFPL5) is a four-transmembrane domain protein in the tetraspan superfamily, acting as an auxiliary subunit of the mechanotransducer (MET) cation channel complex at the tips of stereocilia in cochlear hair cells[10][2][3]. It is essential for sensory transduction in the auditory system by facilitating the functional assembly and trafficking of the MET channel complex, coupling PCDH15 to the transduction channel, and ensuring the correct morphogenesis of hair bundles. Pathogenic mutations in LHFPL5 result in autosomal recessive nonsyndromic sensorineural hearing loss (DFNB67) in humans and corresponding deafness and vestibular phenotypes in animal models[1][2][3][7][11][10]. No approved drugs target LHFPL5, and it is not currently considered a direct therapeutic target for pharmacological intervention.

Other names

TMHSDFNB67dJ510O8.8Lipoma HMGIC fusion partner-like 5Tetraspan membrane protein of hair cell stereociliaLHFP-like protein 5MGC33835