DISEASES

Disease-gene associations mined from literature

Literature associating LHFPL5 and hereditary mixed polyposis syndrome

LHFPL5 [ENSP00000353346]

Tetraspan membrane protein of hair cell stereocilia; 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); Deafness associated genes

Synonyms:  LHFPL5,  LHFPL5p,  hLHFPL5,  Q8TAF8,  Q8TAF8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM