CTLA4

Full Name: Cytotoxic T-Lymphocyte Associated Protein 4

BACKGROUND: 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.

Synonyms: CTLA4; cytotoxic T-lymphocyte-associated protein 4; CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3