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LHFPL1

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LHFPL1
Identifiers
AliasesLHFPL1, lipoma HMGIC fusion partner-like 1, lipoma HMGIC fusion partner like 1, LHFPL tetraspan subfamily member 1
External IDsOMIM: 300566; MGI: 1891214; HomoloGene: 18653; GeneCards: LHFPL1; OMA:LHFPL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_178175

NM_178358

RefSeq (protein)

NP_835469

NP_848135

Location (UCSC)Chr X: 112.63 – 112.68 MbChr X: 144.07 – 144.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lipoma HMGIC fusion partner-like 1 protein is a protein that in humans is encoded by the LHFPL1 gene.[5][6]

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. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182508Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041700Ensembl, 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. ^ Petit MM, Schoenmakers EF, Huysmans C, Geurts JM, Mandahl N, Van de Ven WJ (Aug 1999). "LHFP, a novel translocation partner gene of HMGIC in a lipoma, is a member of a new family of LHFP-like genes". Genomics. 57 (3): 438–41. doi:10.1006/geno.1999.5778. PMID 10329012.
  6. ^ a b "Entrez Gene: LHFPL1 lipoma HMGIC fusion partner-like 1".

Further reading

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