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CTLA4

This gene, which belongs to the immunoglobulin superfamily, produces a protein that sends T cells an inhibitory signal. The protein has a cytoplasmic tail, a transmembrane domain, and a V domain. Different isoforms are encoded by alternative transcriptional splice variants, which have been described. The soluble isoform performs as a monomer, but the membrane-bound isoform behaves as a homodimer joined by a disulfide bond. Insulin-dependent diabetic mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune illnesses have all been linked to mutations in this gene.

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