LHFPL5
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Lipoma HMGIC fusion partner-like 5 is a protein that in humans is encoded by the LHFPL5 gene.
{{cite web
| title = Entrez Gene: Lipoma HMGIC fusion partner-like 5
| url = https://www.ncbi.nlm.nih.gov/gene/222662
| access-date = 2016-06-24
}}
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.
References
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Further reading
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- {{cite journal |vauthors=Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR |title=A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue=22 |pages=7894–9 |year=2005 |pmid=15905332 |pmc=1142366 |doi=10.1073/pnas.0500760102 |bibcode=2005PNAS..102.7894L |doi-access=free }}
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