RRM2B p53R2 Antibody

RRM2B/p53-R2, or p53-inducible ribonucleotide reductase small subunit 2-like protein, is a member of a broad superfamily of ferritin-like di-iron-carboxylate proteins. The RRM2B protein is an enzyme that catalyzes the conversion of ribonucleotides to deoxyribonucleotides that are essential for DNA synthesis, and is found in all eukaryotes. RRM2B plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. It supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. It contains an iron-tyrosyl free radical center required for catalysis, and forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. It is a heterotetramer with a large (RRM1) subunit, and interacts with p53/TP53. The interaction with RRM1 occurs in response to DNA damage and results in its translocation from cytoplasm to nucleus. It is widely expressed at a high level in skeletal muscle and at a weak level in thymus, and expressed in epithelial dysplasias and squamous cell carcinoma. Defects in RRM2B are the cause of encephalomyopathic mitochondrial depletion syndrome with renal tubulopathy (EMDSRT). Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA (mtDNA) copy number. The encephalomyopathic form with renal tubulopathy is presented with various combinations of hypotonia, tubulopathy, seizures, respiratory distress, diarrhea, and lactic acidosis.