Source:http://linkedlifedata.com/resource/umls/id/C1705969
NCI: Human CTLA4 wild-type allele is located within 2q33 and is approximately 6 kb in length. This allele, which encodes cytotoxic T-lymphocyte protein 4, is involved in signal transduction and T-cell regulation. Variant alleles generated from mutations in the 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.