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  • Human DEPDC5 wild-type allele is located within 22q12.2-q12.3 and is approximately 153 kb in length. This allele, which encodes GATOR complex protein DEPDC5, is involved in the modulation of signaling by Ras-related GTP-binding proteins. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci and with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection.
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