CD8A Chromosome 2

CD8 subunit alpha
2 variants 2 Health Risk

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What This Gene Does
The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"CD molecules|V-set domain containing"
Locus Type
gene with protein product
Location
2p11.2
Ensembl
ENSG00000153563
Associated Conditions (1)
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS537395900 Health Risk Conflicting classifications of pathogenicity Susceptibility to respiratory infections associated with CD8alpha chain mutation, Susceptibility to respiratory infections associated with CD8alpha chain mutation
RS121918660 Health Risk Pathogenic Susceptibility to respiratory infections associated with CD8alpha chain mutation, Susceptibility to respiratory infections associated with CD8alpha chain mutation
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