Aliases for CTLA4 Gene
External Ids for CTLA4 Gene
Previous HGNC Symbols for CTLA4 Gene
Previous GeneCards Identifiers for CTLA4 Gene
This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]
GeneCards Summary for CTLA4 Gene
CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) is a Protein Coding gene. Diseases associated with CTLA4 include Autoimmune Lymphoproliferative Syndrome, Type V and Celiac Disease 3. Among its related pathways are TCR Signaling (Qiagen) and T cell receptor signaling pathway. An important paralog of this gene is CD28.
UniProtKB/Swiss-Prot Summary for CTLA4 Gene
Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28.