LHFPL6
Identifiers
AliasesLHFPL6, LHFP, lipoma HMGIC fusion partner, LHFPL tetraspan subfamily member 6
External IDsOMIM: 606710 MGI: 1920048 HomoloGene: 4223 GeneCards: LHFPL6
Orthologs
SpeciesHumanMouse
Entrez

10186

108927

Ensembl

ENSG00000183722

ENSMUSG00000048332

UniProt

Q9Y693

Q8BM86

RefSeq (mRNA)

NM_005780

NM_175386

RefSeq (protein)

NP_005771

NP_780595

Location (UCSC)Chr 13: 39.21 – 39.6 MbChr 3: 52.95 – 53.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lipoma HMGIC fusion partner is a protein that in humans is encoded by the LHFP 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. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene (LHFPL1, LHFPL2) result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183722 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048332 - 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.
  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. 1 2 "Entrez Gene: LHFP lipoma HMGIC fusion partner".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.