{"symbol":"CTLA4","synonyms":["GRD4","CELIAC3","IDDM12","ALPS5","CTLA-4","CD152","GSE"],"name":"cytotoxic T-lymphocyte-associated protein 4","description":"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]","ncbiEntrezGeneId":1493,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1493","proteins":[{"symbol":"CTLA4_HUMAN","href":"/api/1.0/protein/CTLA4_HUMAN"}],"hgncRootFamilies":[{"name":"CD molecules (CD)","href":"/api/1.0/gene_family/CD+molecules+%28CD%29"},{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"}]}