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.[provided by RefSeq, Feb 2010]
Function
metal ion binding; ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor
Synonyms
RRM2B; ribonucleotide reductase M2 B (TP53 inducible); P53R2; MTDPS8A; MTDPS8B; ribonucleoside-diphosphate reductase subunit M2 B; TP53-inducible ribonucleotide reductase M2 B; p53-inducible ribonucleotide reductase small subunit 2 homolog; p53-inducible ribonucleotide reductase small subunit 2-like protein; p53-inducible ribonucleotide reductase small subunit 2 short form beta
Citations
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