|Other Names||Tetraspan membrane protein of hair cell stereocilia, Lipoma HMGIC fusion partner-like 5 protein, LHFPL5, TMHS|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity).|
|Cellular Location||Cell membrane; Multi-pass membrane protein. Note=Efficient localization to the plasma membrane requires the presence of PCDH15.|
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This gene is a member of the lipoma HMGIC fusion partner(LHFP) gene family, which is a subset of the superfamily oftetraspan transmembrane protein encoding genes. Mutations in thisgene result in deafness in humans, and a mutation in a similar genein mice results in deafness and vestibular dysfunction with severedegeneration of the organ of Corti. It is proposed to function inhair bundle morphogenesis.
Cosetti, M., et al. Ann. Otol. Rhinol. Laryngol. 117(11):827-833(2008)Shabbir, M.I., et al. J. Med. Genet. 43(8):634-640(2006)Longo-Guess, C.M., et al. Proc. Natl. Acad. Sci. U.S.A. 102(22):7894-7899(2005)
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