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 HomoloGene: 18794 GeneCards: LHFPL5
Gene location (Human)
Chr.	Chromosome 6 (human)
End	35,845,397 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	28,804,653 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; bone marrow cells; ; skin of abdomen; ; Brodmann area 9; ; blood; ; right lung; ; prefrontal cortex; ; transverse colon; ; stromal cell of endometrium; ; upper lobe of left lung;
	Top expressed in
	otolith organ; ; utricle; ; facial motor nucleus; ; arcuate nucleus; ; dorsomedial hypothalamic nucleus; ; supraoptic nucleus; ; median eminence; ; pontine nuclei; ; ventral tegmental area; ; paraventricular nucleus of hypothalamus;
	More reference expression data
	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; sensory perception of sound; detection of mechanical stimulus involved in sensory perception of sound;
	Sources:Amigo / QuickGO
Orthologs
	222662
	328789
	ENSG00000197753
	ENSMUSG00000062252
	Q8TAF8
	Q4KL25
	NM_182548
	NM_026571
	NP_872354
	NP_080847
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

1 2 3 GRCh38: Ensembl release 89: ENSG00000197753 - Ensembl, May 2017
1 2 3 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.

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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000197753 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062252 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Lipoma HMGIC fusion partner-like 5". Retrieved 2016-06-24.

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Function

References

Further reading