GeneID: 234

Description:
The CTLA-4 gene is a member of the immunoglobulin superfamily. It is expressed nearly exclusively on the membrane of activated T-cells and plays an important role in the regulation of T-cell immune responses by mediating inhibition of T cell activation. 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. Moreover, a polymorphism in this gene associated with red blood cell alloimmunization among sickle cell disease patients, highlighting a role played by CTLA-4 on post-transfusion antibody development.

Synonyms: CD , GSE , GRD4 , ALPS5 , CD152 , CTLA-4 , IDDM12 , CELIAC3

Comments:
N/A

Number of entries/variants: 1

1. McCoy KD, Le Gros G, The role of CTLA-4 in the regulation of T cell immune responses., Immunol. Cell Biol. , 77(1), 1-10, 1999 PubMed
2. Oliveira VB, Dezan MR, Gomes FCA, Menosi Gualandro SF, Krieger JE, Pereira AC, Marsiglia JD, Levi JE, Rocha V, Mendrone-Junior A, Sabino EC, Dinardo CL, -318C/T polymorphism of the CTLA-4 gene is an independent risk factor for RBC alloimmunization among sickle cell disease patients., Int. J. Immunogenet. , 2017 PubMed