CD81 Chromosome 11

CD81 molecule
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"CD molecules|Tetraspanins|Gamete adhesion and fusion factors"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000110651
Associated Conditions (3)
Immunodeficiency
common variable
6
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS149336067 Health Risk Conflicting classifications of pathogenicity
RS562261414 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable, 6
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