LHFPL5

Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of the shorter stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15. Functionally couples PCDH15 to the transduction channel.

Deafness, autosomal recessive, 67

DFNB67

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the LHFP family.

• Cell membrane
• Multi-pass membrane protein
• Efficient localization to the plasma membrane requires the presence of PCDH15.

TMHS, LHFPL5, LHFPL tetraspan subfamily member 5 protein, Lipoma HMGIC fusion partner-like 5 protein, Tetraspan membrane protein of hair cell stereocilia

• entrezGene:222662
• omim:609427
• swissprot:Q8TAF8

Proteins

24201Da