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CTLA4 / CD152 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.
Gene Name: | cytotoxic T-lymphocyte-associated protein 4 |
Synonyms: | CTLA4, CD152, CELIAC3, CD152 antigen, CTLA-4, Celiac disease 3, IDDM12, GRD4, GSE, CD152 isoform |
Target Sequences: | NM_005214 NP_005205.2 P16410 |
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