ribonucleotide reductase regulatory TP53 inducible subunit M2B
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L RRM2B gene provides instructions for making one piece, called the p53 inducible small subunit (p53R2), of a protein called ribonucleotide reductase (RNR). Two copies of the p53R2 subunit are attached to two copies of another protein called R1 to form RNR. (R1 can also attach to another small subunit, called R2, to make another form of RNR). Whether made with p53R2 or R2, RNR helps produce DNA building blocks (nucleotides), which are joined to one another in a particular order to form DNA.
Normal function
L RRM2B gene provides instructions for making one piece, called the p53 inducible small subunit (p53R2), of a protein called ribonucleotide reductase (RNR). Two copies of the p53R2 subunit are attached to two copies of another protein called R1 to form RNR. (R1 can also attach to another small subunit, called R2, to make another form of RNR). Whether made with p53R2 or R2, RNR helps produce DNA building blocks (nucleotides), which are joined to one another in a particular order to form DNA.
RNRs containing p53R2 make nucleotides that are used for the formation of DNA in specialized cell structures called mitochondria. Although most DNA is packaged in chromosomes within the cell's nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA (mitochondrial DNA or mtDNA). Mitochondria are the energy-producing centers in cells, and the DNA in these structures contains genes essential for the process of energy production (called oxidative phosphorylation). The production of nucleotides by p53R2 also helps maintain a normal amount of mtDNA in cells.
Conditions referring to this gene or chromosome
Altri nomi
MTDPS8A
MTDPS8B
p53-inducible ribonucleotide reductase small subunit 2 homolog
p53-inducible ribonucleotide reductase small subunit 2 short form beta
p53-inducible ribonucleotide reductase small subunit 2-like protein
P53R2
ribonucleoside-diphosphate reductase subunit M2 B isoform 1
ribonucleoside-diphosphate reductase subunit M2 B isoform 2
ribonucleoside-diphosphate reductase subunit M2 B isoform 3
ribonucleotide reductase M2 B (TP53 inducible)
TP53-inducible ribonucleotide reductase M2 B
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Ulteriori letture e riferimenti
- ribonucleotide reductase regulatory TP53 inducible subunit M2B; MedlinePlus, National Library of Medicine.
- Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7.
- Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b. No abstract available.
- Lim AZ, McFarland R, Taylor RW, Gorman GS. RRM2B Mitochondrial DNA Maintenance Defects. 2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK195854/
- Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.
- Pontarin G, Ferraro P, Bee L, Reichard P, Bianchi V. Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells. Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13302-7. doi: 10.1073/pnas.1211289109. Epub 2012 Jul 30.
- Pontarin G, Fijolek A, Pizzo P, Ferraro P, Rampazzo C, Pozzan T, Thelander L, Reichard PA, Bianchi V. Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage. Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17801-6. doi: 10.1073/pnas.0808198105. Epub 2008 Nov 7.
- Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.
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