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  • Human ADA2 wild-type allele is located in the vicinity of 22q11.1 and is approximately 79 kb in length. This allele, which encodes adenosine deaminase 2 protein, is involved in adenosine metabolism. Mutation of the gene is associated with Sneddon syndrome and vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS). Amplification of the region including this gene is caused by a supernumerary bisatellited isodicentric chromosomal abnormality and is associated with Cat Eye Syndrome.
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