Gene Symbol | CTLA4 |
Entrez Gene ID | 1493 |
Full Name | cytotoxic T-lymphocyte associated protein 4 |
Synonyms | ALPS5,CD,CD152,CELIAC3,CTLA-4,GRD4,GSE,IDDM12 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Hashimoto thyroiditis}, 140300 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3); {Diabetes mellitus, insulin-dependent, 12}, 601388 (3); {Celiac disease, susceptibility to, 3}, 609755 (3); Autoimmune lymphoproliferative syndrome, type V, 616100 (3) |