LHFPL1

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

340596

237091

Ensembl

ENSG00000182508

ENSMUSG00000041700

UniProt

Q86WI0

Q80SV1

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
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.

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.