LHFPL5
Lipoma HMGIC fusion partner-like 5 is a protein that in humans is encoded by the LHFPL5 gene. [5]
| LHFPL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | LHFPL5, DFNB67, TMHS, dJ510O8.8, lipoma HMGIC fusion partner-like 5, LHFPL tetraspan subfamily member 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609427 MGI: 1915382 HomoloGene: 18794 GeneCards: LHFPL5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
- GRCh38: Ensembl release 89: ENSG00000197753 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000062252 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Lipoma HMGIC fusion partner-like 5". Retrieved 2016-06-24.
Further reading
- Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (2005). "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. Bibcode:2005PNAS..102.7894L. doi:10.1073/pnas.0500760102. PMC 1142366. PMID 15905332.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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