RRM2B wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - MTDPS8A - MTDPS8B - P53R2 - PEOA5 - Ribonucleotide Reductase M2 B (TP53 Inducible) wt Allele