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LHFPL5

From Wikipedia, the free encyclopedia
LHFPL5
Identifiers
AliasesLHFPL5, DFNB67, TMHS, dJ510O8.8, lipoma HMGIC fusion partner-like 5, LHFPL tetraspan subfamily member 5
External IDsOMIM: 609427; MGI: 1915382; HomoloGene: 18794; GeneCards: LHFPL5; OMA:LHFPL5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_182548

NM_026571

RefSeq (protein)

NP_872354

NP_080847

Location (UCSC)Chr 6: 35.8 – 35.85 MbChr 17: 28.79 – 28.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000197753Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062252Ensembl, 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.
  5. ^ "Entrez Gene: Lipoma HMGIC fusion partner-like 5". Retrieved 2016-06-24.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.