This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. [provided by RefSeq, Jul 2008],
Function:
developmental stage:Induced at programmed cell death.,Disease:Genetic variation in PDCD1 is associated with susceptibility to systemic lupus erythematosus type 2 (SLEB2) [MIM:605218]. Systemic lupus erythematosus is a chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system.,Function:Possible cell death inducer, in association with other factors.,similarity:Contains 1 Ig-like V-type (immunoglobulin-like) domain.,subunit:Monomer.,
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Cellular Localization:
Membranous, Cytoplasmic
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Tissue Expression:
Placenta,Pooled tissue,Uterine cervix,
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Research Areas:
>>Cell adhesion molecules ;
>>T cell receptor signaling pathway ;
>>PD-L1 expression and PD-1 checkpoint pathway in cancer