Description
Product Characteristics: RRM2B (Ribonucleoside-diphosphate reductase subunit M2B) plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. RRM2B supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. RRM2B 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. RRM2B binds 2 iron ions per subunit. RRM2B interacts with p53/TP53 and interacts with RRM1 in response to DNA damage. RRM2B is widely expressed at a high level in skeletal muscle and at a weak level in thymus. Defects in RRM2B are the cause of encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT)
Synonyms: P53R2( p53-inducible ribonucleotide reductase small subunit 2-like protein)
Target Information: 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]