CTLA-4-gene

The CTLA-4 gene is a member of the immunoglobulin superfamily and encodes a protein (CTLA-4) that transmits an inhibitory signal to T cells.

The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternative transcriptional splice variants encoding different isoforms have been characterized. The membrane-bound isoform functions as a homodimer linked by a disulfide bond, whereas the soluble isoform functions as a monomer.

Polymorphisms in the CTLA-4 gene have been associated with insulin-dependent diabetes mellitus, Graves disease (Graves' disease), Hashimoto's thyroiditis, celiac disease, systemic lupus erythematosus, pemphigus vulgaris, thyroid-associated orbitopathy, and other autoimmune diseases. CTLA-4 polymorphisms may also play a pathogenetic role in vasculitic diseases such as Schönlein-Henoch purpura and various infectious diseases (e.g. leishmaniasis) (Hou HH et al. 2017).

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