BC117496
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
48,787 Da
NCBI Official Full Name
Homo sapiens ribonucleotide reductase M2 B (TP53 inducible), mRNA
NCBI Official Synonym Full Names
ribonucleotide reductase regulatory TP53 inducible subunit M2B
NCBI Protein Information
ribonucleoside-diphosphate reductase subunit M2 B
UniProt Protein Name
Ribonucleoside-diphosphate reductase subunit M2 B
UniProt Synonym Protein Names
TP53-inducible ribonucleotide reductase M2 B; p53-inducible ribonucleotide reductase small subunit 2-like protein; p53R2
UniProt Synonym Gene Names
UniProt Entry Name
RIR2B_HUMAN
NCBI Summary for RRM2B
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]
UniProt Comments for RRM2B
RRM2B: 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. Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8A (MTDPS8A). A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy. Defects in RRM2B are the cause of mitochondrial DNA depletion syndrome type 8B (MTDPS8B). A disease due to mitochondrial dysfunction and characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy. Defects in RRM2B are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 5 (PEOA5). A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Belongs to the ribonucleoside diphosphate reductase small chain family. 5 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 1.17.4.1; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Other Amino Acids Metabolism - glutathione; Oxidoreductase
Chromosomal Location of Human Ortholog: 8q23.1
Cellular Component: cytoplasm; nucleoplasm; ribonucleoside-diphosphate reductase complex
Molecular Function: protein binding; ribonucleoside-diphosphate reductase activity
Biological Process: deoxyribonucleotide biosynthetic process; nucleobase, nucleoside and nucleotide interconversion
Disease: Mitochondrial Dna Depletion Syndrome 8a (encephalomyopathic Type With Renal Tubulopathy); Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Research Articles on RRM2B
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Pathways associated with RRM2B cdna clone
Diseases associated with RRM2B cdna clone
Organs/Tissues associated with RRM2B cdna clone
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