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.