Lipoma HMGIC Fusion Partner Like Protein 4 (LHFPL4)

By database analysis, Longo-Guess et al. (2005) identified LHFPL4 as a tetraspan protein that shares more than 62% identity with TMHS (LHFPL5).By genomic sequence analysis, Longo-Guess et al. (2005) mapped the LHFPL4 gene to chromosome 3p25.

In 2 large Turkish consanguineous families, Kalay et al. (2006) found a homozygous 1-bp deletion and a missense mutation , respectively, in the LHFPL5 gene. Mutation screening of the homologous LHFPL3 and LHFPL4 genes did not reveal any disease-causing mutation. The findings suggested that LHFPL5 is essential for normal function of the human cochlea