Lipoma HMGIC Fusion Partner Like Protein 2 (LHFPL2)

LHFPL2 is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.

The deduced protein contains putative transmembrane domains. Northern blot analysis detected LHFPL2 expression in all tissues and cell lines examined except brain and peripheral blood leukocytes.The deduced 193-amino acid protein shares 27% identity with LHFP.