LHFPL5

LHFPL5
Identifiers
Aliases	LHFPL5, DFNB67, TMHS, dJ510O8.8, lipoma HMGIC fusion partner-like 5, LHFPL tetraspan subfamily member 5
External IDs	OMIM: 609427; MGI: 1915382; GeneCards: LHFPL5
Gene location (Human) Chr. Chromosome 6 (human) Band 6p21.31 Start 35,797,206 bp End 35,845,397 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 A3.3|17 14.77 cM Start 28,794,615 bp End 28,804,653 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas testicle epithelium of colon bone marrow cell skin of abdomen skin of leg Brodmann area 9 anterior cingulate cortex right frontal lobe blood Top expressed in otolith organ utricle facial motor nucleus lumbar spinal ganglion vestibular sensory epithelium arcuate nucleus dorsomedial hypothalamic nucleus supraoptic nucleus median eminence pontine nuclei More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component stereocilium bundle integral component of membrane plasma membrane apical plasma membrane stereocilium tip membrane Biological process auditory receptor cell stereocilium organization ion transport hearing detection of mechanical stimulus involved in sensory perception of sound Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 222662 328789 Ensembl ENSG00000197753 ENSMUSG00000062252 UniProt Q8TAF8 Q4KL25 RefSeq (mRNA) NM_182548 NM_026571 RefSeq (protein) NP_872354 NP_080847 Location (UCSC) Chr 6: 35.8 – 35.85 Mb Chr 17: 28.79 – 28.8 Mb PubMed search
Wikidata
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Lipoma HMGIC fusion partner-like 5 is a protein that in humans is encoded by the LHFPL5 gene.

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 (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.