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  • Human RNF216 wild-type allele is located in the vicinity of 7p22.1 and is approximately 162 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RNF216 protein, plays a role in both protein ubiquitination and catabolism. Mutation of the protein is associated with cerebellar ataxia and hypogonadotropic hypogonadism.
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