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LHFPL5 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Additionally we are shipping LHFPL5 Antibodies (20) and LHFPL5 Kits (5) and many more products for this protein.
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LHFPL5 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss.
Five microsatellites in the 6p21.31e22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic hearing loss.
These findings establish the importance of TMHS for normal sound transduction in humans.
Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies
The authors present an overview of the LHFP gene family in mouse and humans
TMHS is an integral component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 (show PCDH15 Proteins) to the transduction channel.
TMHS localizes to the apical membrane of inner ear hair cells during stereocilia formation suggesting a function in hair bundle morphogenesis; a missense mutation underlies deafness in hurry-scurry mice.
Hurry-scurry (hscy)-2J, a mutation of Tmhs, causes abnormal splicing from a cryptic splice site within exon 2 that is predicted to produce a functionally null protein lacking 51 amino acids of the wild-type sequence.
This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis.
LHFP-like protein 5
, lipoma HMGIC fusion partner-like 5 protein
, tetraspan membrane protein of hair cell stereocilia
, tetraspan transmembrane protein, hair cell stereocilia
, peripheral myelin protein 22
, peripheral myelin protein 22a
, tetraspan membrane protein of hair cell stereocilia homolog