p53R2 Recombinant Protein | RRM2B recombinant protein

p53R2 Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121300

• Gene Names: RRM2B; P53R2; MTDPS8A; MTDPS8B
• Purity: >92% as determined by SDS-PAGE
• Synonyms: p53R2; p53R2 Protein; Human; Recombinant (His Tag); Human RRM2B/P53R2 Protein (His Tag); MTDPS8A Protein; MTDPS8B Protein; P53R2 Protein; ribonucleotide reductase M2 B (TP53 inducible); RRM2B recombinant protein

• Host: E Coli
• Purity/Purification: >92% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, 30% glycerol, pH8.5. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Met1-Phe351

• Species: Human
• Predicted N Terminal: Met
• Tag: N-His
• Protein Construction: A DNA sequence encoding the human RRM2B (Q7LG56-1)(Met 1-Phe 351) was expressed, with a polyhistide tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for RRM2B recombinant protein

Background: Ribonucleoside reductase subunit M2B, also known as RRM2B or p53R2, is an enzyme belonging to the iron-dependent ribonucleotide reductase (RNR) enzyme family which is essential for DNA synthesis. Ribonucleotide reductase (RNR) is an enzyme that catalyzes the formation of deoxyribonucleotides from ribonucleotides and plays a critical role in regulating the total rate of DNA synthesis so that DNA to cell mass is maintained at a constant ratio during cell division and DNA repair. RRM2B is a phosphorylated protein. It is hypothesized that RRM2B activity can be regulated at the posttranslational level in response to DNA damage. RRM2B has previously been shown to be essential for the maintenance of mtDNA copy number and its candidacy for tumor suppression has been evaluated in several mutational analyses of different cancer types. However, the contribution of RRM2B to the DNA damage response has been questioned because its transcriptional induction upon DNA damage is not rapid enough for prompt DNA repair. Instead, ATM-mediated phosphorylation has been suggested to regulate the DNA repair activity of RRM2B posttranslationally. Besides, a defect in RRM2B can induce a mild muscle disease of adult onset through disturbance of mitochondrial homeostasis but that this defect does not appear to be oncogenic.

References

Bourdon A, et al. (2007) Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nature Genetics. 39: 776-80.Tyynismaa H, et al. (2009) A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions. AJHG. 85 (2) : 290-5.Shaibani A, et al. (2009) Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol.66 (8): 1028-32.

NCBI and Uniprot Product Information

• NCBI GI #: 289177074
• NCBI GeneID: 50484
• NCBI Accession #: NP_001165948.1
• NCBI GenBank Nucleotide #: NM_001172477.1
• UniProt Accession #: Q7LG56; Q17R22; Q75PQ6; Q75PQ7; Q75PY8; Q75PY9; Q86YE3; Q9NPD6; Q9NTD8; Q9NUW3
• Molecular Weight: 40,737 Da
• NCBI Official Full Name: ribonucleoside-diphosphate reductase subunit M2 B isoform 2
• NCBI Official Synonym Full Names: ribonucleotide reductase M2 B (TP53 inducible)
• NCBI Official Symbol: RRM2B
• NCBI Official Synonym Symbols: P53R2; MTDPS8A; MTDPS8B
• NCBI Protein Information: 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 ribonucleot
• UniProt Protein Name: Ribonucleoside-diphosphate reductase subunit M2 B
• Protein Family: Ribonucleoside-diphosphate reductase
• UniProt Gene Name: RRM2B
• UniProt Synonym Gene Names: P53R2; p53R2
• UniProt Entry Name: RIR2B_HUMAN

NCBI Description

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 Description

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: Nucleotide Metabolism - purine; EC 1.17.4.1; Nucleotide Metabolism - pyrimidine; Oxidoreductase; Other Amino Acids Metabolism - glutathione

Chromosomal Location of Human Ortholog: 8q23.1

Cellular Component: nucleoplasm; cytoplasm

Molecular Function: metal ion binding; ribonucleoside-diphosphate reductase activity

Biological Process: deoxyribonucleoside diphosphate metabolic process; renal system process; nucleobase, nucleoside and nucleotide metabolic process; nucleobase, nucleoside and nucleotide interconversion; deoxyribonucleotide biosynthetic process; response to oxidative stress; mitochondrial DNA replication; kidney development; DNA repair; deoxyribonucleoside triphosphate metabolic process

Disease: Mitochondrial Dna Depletion Syndrome 8a (encephalomyopathic Type With Renal Tubulopathy); Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5