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LHFPL3 (gene)

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LHFPL3
Identifiers
AliasesLHFPL3, LHFPL4, lipoma HMGIC fusion partner-like 3, LHFPL tetraspan subfamily member 3
External IDsOMIM: 609719; MGI: 1925076; HomoloGene: 26732; GeneCards: LHFPL3; OMA:LHFPL3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_199000
NM_001386065

NM_001081231
NM_029990
NM_001359998

RefSeq (protein)

NP_945351

NP_001074700
NP_084266
NP_001346927

Location (UCSC)Chr 7: 104.33 – 104.91 MbChr 5: 22.95 – 23.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

LHFPL tetraspan subfamily member 3 is a protein that in humans is encoded by the LHFPL3 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 one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187416Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000106379Ensembl, 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: LHFPL tetraspan subfamily member 3". Retrieved 2018-01-30.

Further reading

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