LHFPL5 explained

Lipoma HMGIC fusion partner-like 5 is a protein that in humans is encoded by the LHFPL5 gene.^[1]

Function

This gene 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 this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis.

Further reading

• Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR . A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice . Proc. Natl. Acad. Sci. U.S.A. . 102 . 22 . 7894–9 . 2005 . 15905332 . 1142366 . 10.1073/pnas.0500760102 . 2005PNAS..102.7894L . free .

Notes and References

1. Web site: Entrez Gene: Lipoma HMGIC fusion partner-like 5. 2016-06-24.