Description
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.
Storage
Store the lyophilized protein at -20 to -80 centigrade for long term. After reconstitution to a concentration of 0.1-0.5 mg/mL in sterile distilled water, the protein solution is stable at -20 centigrade for 3 months, at 2-8 centigrade for up to 1 week. Aliquot to avoid repeated freezing and thawing.
