Anti-LHFPL5 antibody - C-terminal

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

LHFPL5 also known as TMHS (Tetraspan Membrane Protein of the Hair Cell Stereocilia) functions mechanically as a component of mechanotransduction in hair cells. This protein has an estimated mass of around 25 kDa and is mainly expressed in the inner ear's cochlear and vestibular systems. It resides in the stereocilia of hair cells where it plays an important role in auditory systems through its association with mechanotransduction channels.

Biological function summary

LHFPL5 contributes to auditory transduction by interacting with other proteins in a complex critical for hair cell function. This complex is involved in converting mechanical stimuli into neural signals. LHFPL5 supports the integrity and function of the mechanotransduction channel allowing the inner ear to detect sound and balance changes. The protein acts as a molecular anchor directly influencing the gating of the channel and overall sensory capabilities.

Pathways

LHFPL5 integrates into the auditory mechanotransduction pathway necessary for hearing. It works in conjunction with proteins such as protocadherin 15 (PCDH15) and myosin 7a which are vital for the linking of molecular structures within the stereocilia. These interactions contribute to the pathway's role in enabling the propagation of electrical signals generated from mechanical excitation fundamental to auditory perception.

Associated diseases and disorders

Mutations in LHFPL5 are linked to Usher syndrome which causes deafness and progressive vision loss. Additionally its dysfunction is associated with non-syndromic hearing loss. These conditions often involve abnormal interactions with other implicated proteins such as cadherin 23 (CDH23) highlighting the interconnected nature of LHFPL5 within the structural and functional frameworks essential for normal hearing and balance.