LHFPL1

LHFPL1
Identifiers
Aliases LHFPL1
External IDs MGI: 1891214 HomoloGene: 18653 GeneCards: LHFPL1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

340596

237091

Ensembl

ENSG00000182508

ENSMUSG00000041700

UniProt

Q86WI0

Q80SV1

RefSeq (mRNA)

NM_178175

NM_178358

RefSeq (protein)

NP_835469.1

NP_848135.1

Location (UCSC) Chr X: 112.63 – 112.68 Mb Chr X: 145.29 – 145.35 Mb
PubMed search [1] [2]
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.[3][4]

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.[4]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 1 2 "Entrez Gene: LHFPL1 lipoma HMGIC fusion partner-like 1".

Further reading


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