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Human RRM2B wild-type allele is located in the vicinity of 8q23.1 and is approximately 35 kb in length. This allele, which encodes ribonucleoside-diphosphate reductase subunit M2 B protein, is involved in generation of deoxyribonucleoside diphosphates. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy.
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