CD4 Chromosome 12

CD4 molecule
2 variants 2 Health Risk

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What This Gene Does
This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 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 II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"CD molecules|V-set domain containing|C2-set domain containing"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000010610
Associated Conditions (1)
Immunodeficiency 79
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS200294737 Health Risk Pathogenic Immunodeficiency 79, Immunodeficiency 79
RS782212142 Health Risk Pathogenic Immunodeficiency 79, Immunodeficiency 79
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