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 at -80 centigrade.
Stability: Unopened vial can be stored between 2 and 8 centigrade for up to 2 weeks, at -20 centigrade for up to 6 months, or at -70 centigrade or below until the expiration date. Aliquots can be stored between 2 and 8 centigrade for up to one week and stored at -20 centigrade or colder for up to 3 months. Avoid repeated freeze/thaw cycles.
