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. [provided by RefSeq, Jul 2008]
Subcellular Location:
Membrane.
Tissue Specificity:
Widely expressed. Expressed at high levels in lung, thymus, skeletal muscle, colon and ovary.
Similarity:
Belongs to the LHFP family.
SWISS:
Q86WI0
Gene ID:
340596
Database links:
Entrez Gene: 340596 Human
Omim: 300566 Human
SwissProt: Q86WI0 Human
Unigene: 297420 Human
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Sample: A549 Cell Lysate at 40 ug
Primary: Anti-LHFPL1 (SL18239R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 22 kD
Observed band size: 22 kD
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