背景
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.
