Alias |
ALPS5,CD 152,CD,CD152,CD152 antigen,CD152 isoform,Celiac disease 3,CELIAC3,CTLA 4,CTLA-4,CTLA4,CTLA4,Cytotoxic T cell associated 4,Cytotoxic T lymphocyte antigen 4,Cytotoxic T lymphocyte associated 4,Cytotoxic T lymphocyte associated 4,soluble isoform,included,Cytotoxic T lymphocyte associated antigen 4,Cytotoxic T lymphocyte associated antigen 4 short spliced form,Cytotoxic T lymphocyte associated protein 4,Cytotoxic T lymphocyte associated serine esterase 4,Cytotoxic T lymphocyte protein 4,Cytotoxic T-lymphocyte protein 4,Cytotoxic T-lymphocyte-associated antigen 4,GRD4,GSE,ICOS,IDDM12,insulin-dependent diabetes mellitus 12,Ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4,OTTHUMP00000216623 |
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. |