Disease relevance of LHFPL5

• Mutations of human TMHS cause recessively inherited non-syndromic hearing loss [1].

High impact information on LHFPL5

• Our localization of TMHS to the apical membrane of inner ear hair cells during the period of stereocilia formation suggests a function in hair bundle morphogenesis [2].
• Two related proteins (>60% amino acid identity) are encoded by genes on mouse chromosomes 5 and 6 and, together with the Tmhs-encoded protein (TMHS), comprise a distinct tetraspan subfamily [2].
• We identified a fusion transcript consisting of the first exon of 182-FIP and the last exon of LHFPL5 in patient-derived cells [3].
• Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation [4].
• Our findings indicate that LHFPL5 is essential for normal function of the human cochlea [4].

Biological context of LHFPL5

• The human homologue of Tmhs is located on chromosome 6p [1].
• RESULTS: A novel locus for non-syndromic deafness DFNB67 was mapped in an interval of approximately 28.51 cM on human chromosome 6p21.1-p22 [1].
• 3. DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval [1].

Anatomical context of LHFPL5

• Tmhs encodes a predicted tetraspan protein of unknown function, which is expressed in inner ear hair cells [1].

References