====== LHFPL5 ======
LHFPL5 stands for Lipoma HMGIC Fusion Partner-Like 5, which is a [[gene]] that codes for a protein that is a component of the hair cell [[stereocilia]] in the inner ear. Mutations in the LHFPL5 gene have been linked to hearing loss, particularly in high frequencies.
----
The mechano-electrical [[transduction]] (MET) [[channel]] of the [[inner ear]] receptor cells, termed [[hair cell]]s, is a protein complex that enables our senses of [[hearing]] and [[balance]]. Hair cell MET requires an elaborate interplay of multiple [[protein]]s that form the MET channel. One of the MET complex components is the [[transmembrane protein]] [[LHFPL5]], which is required for [[hair cell]] MET and [[hearing]]. LHFPL5 is thought to form a multi-protein complex with other MET channel proteins, such as [[PCDH15]], [[TMIE]], and [[TMC1]]. Despite localizing to the plasma membrane of stereocilia, the mechanosensing organelles of hair cells, LHFPL5 requires its binding partner within the MET complex, PCDH15, to localize to the stereocilia tips in hair cells and to the plasma membrane in heterologous cells. Using the [[Aquaporin 3-tGFP reporter]] (AGR) for plasma membrane localization, Soler et al from the [[University Hospitals Cleveland Medical Center]], found that a region within extracellular loop 1, which interacts with PCDH15, precludes the trafficking of AGR reporter to the plasma membrane in heterologous cell lines. The results suggest that the presence of protein partners may mask [[endoplasmic reticulum]] retention regions or enable the proper folding and trafficking of the MET complex components, to facilitate the expression of the MET complex at the stereocilia membrane
((Soler DC, Ballesteros A, Sloan AE, McCormick TS, Stepanyan R. Multiple plasma membrane reporters discern LHFPL5 region that blocks trafficking to the plasma membrane. Sci Rep. 2023 Feb 13;13(1):2528. doi: 10.1038/s41598-023-28045-w. PMID: 36781873.)).