LHFPL3

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. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]

Description

LHFPL tetraspan subfamily member 3

Tissue specificity

Group enriched (brain, retina)

Subcell location

Vesicles

Predicted location

Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins

Chromosome

7 (104328700 - 104907232)

Ensembl ID

ENSG00000187416  (ver. 103.38)

Orthologs

Mouse Lhfpl3: ENSMUSG00000106379

UniProt

Q86UP9

neXtProt

NX_Q86UP9

Human splice variants
Mouse splice variants

Protein structure