Entrez gene ID | | 50484 |
Official gene symbol | | RRM2B |
Full name | | ribonucleotide reductase M2 B (TP53 inducible) |
Aliases | | ,DKFZp686M05248,MGC102856,MGC42116,P53R2, |
Gene summary | | This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described. |
Location | | Chromosome: 8 Locus: 8q23.1 |
Gene position | | 103251346 - 103216729 Map Viewer |
Gene orientation | | minus |
Gene size | | 34618 bp |
Gene sequence |
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OMIM ID | | 604712 |