Aliases LHFPL1 Ensembl ENSG00000182508 | Entrez 340596 | |
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External IDs MGI: 1891214 HomoloGene: 18653 GeneCards: LHFPL1 |
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.
References
LHFPL1 Wikipedia(Text) CC BY-SA