Learning all sorts of stuff from my DNA... CTLA4 [rs231775] - TopicsExpress



          

Learning all sorts of stuff from my DNA... CTLA4 [rs231775] You have a homozygous mutation +/+, meaning that you have inherited one mutated copy of this gene from each of your parents. What is CTLA4? 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.
Posted on: Fri, 03 Oct 2014 07:40:40 +0000

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