Aliases for RRM2B Gene
External Ids for RRM2B Gene
Previous GeneCards Identifiers for RRM2B Gene
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]
GeneCards Summary for RRM2B Gene
RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B) is a Protein Coding gene. Diseases associated with RRM2B include Mitochondrial Dna Depletion Syndrome 8A and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5. Among its related pathways are Purine metabolism and p53 Pathway (RnD). GO annotations related to this gene include ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor. An important paralog of this gene is RRM2.
UniProtKB/Swiss-Prot for RRM2B Gene
Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage.