CTLA4 is a member of the immunoglobulin superfamilyand encodes a protein which transmits an inhibitory signal to Tcells. The protein contains a V domain, a transmembrane domain, anda cytoplasmic tail. Alternate transcriptional splice variants,encoding different isoforms, have been characterized. Themembrane-bound isoform functions as a homodimer interconnected by adisulfide bond, while the soluble isoform functions as a monomer.Mutations in this gene have been associated with insulin-dependentdiabetes mellitus, Graves disease, Hashimoto thyroiditis, celiacdisease, systemic lupus erythematosus, thyroid-associatedorbitopathy, and other autoimmune diseases.
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Protein Aliases: CD152; CD152 isoform; celiac disease 3; CELIAC3; CTLA-4; cytotoxic T lymphocyte associated antigen 4 short spliced form; cytotoxic T-lymphocyte antigen 4; Cytotoxic T-lymphocyte protein 4; Cytotoxic T-lymphocyte-associated antigen 4; cytotoxic T-lymphocyte-associated protein 4; cytotoxic T-lymphocyte-associated serine esterase-4; GRD4; ICOS; IDDM12; insulin-dependent diabetes mellitus 12; ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4
Gene Aliases: ALPS5; CD; CD152; CELIAC3; CTLA-4; CTLA4; GRD4; GSE; IDDM12
UniProt ID: (Human) P16410
Entrez Gene ID: (Human) 1493