Lipoma HMGIC Fusion Partner Like Protein 1 (LHFPL1)

LHFPL1 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.

.The deduced 220-amino acid protein has a calculated molecular mass of 23.7 kD and shares 63% identity with LHFP. LHFPL1 contains an N-terminal signal sequence and 3 transmembrane domains. It was predicted to localize to the endoplasmic reticulum. PCR analysis detected expression of LHFPL1 in all 17 tissues examined, with highest levels in lung, thymus, skeletal muscle, colon, and ovary.