CTLA4 Gene (Protein Coding)  Cytotoxic T-Lymphocyte Associated Protein 4

From Proteopedia

CTLA4 Gene (Protein Coding)  Cytotoxic T-Lymphocyte Associated Protein 4

Function: 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. CTLA4_HUMAN,P16410

Disease cytotoxic T-lymphocyte-associated granule serine protease 4,B7 costimulatory protein receptor for CD80,CD86,negative regulatory T cell presenting costimulatory molecule,member of the immunoglobulin superfamily,with an association of the exon 3 microsatellite,106bp allele with autoimmune disorders: Graves disease and associated Hoshimoto thyroid associated but not to systemic lupus erythematosus), celiac disease and multiple sclerosis

Summary: CTLA4 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] Structural highlights: protein contains an extracellular V domain, a transmembrane domain, and a cytoplasmic tail. Alternate 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