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RRM2B

ribonucleotide reductase M2 B (TP53 inducible)

On chromosome: 8q23.1
Known also as: P53R2; MGC42116; MGC102856; DKFZp686M05248;


NCBI Gene ID: 50484
NCBI Ensembl Id: ENSG00000048392
MIM Id: (from NCBI OMIM database) 604712
Species: Homo sapiens

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.


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Authors Title Journal
Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromuscul Disord Jan. 1, 2009
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 Aug. 1, 2009
Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol Aug. 1, 2009
Smith P, Zhou B, Ho N, Yuan YC, Su L, Tsai SC, Yen Y 2.6 A X-ray crystal structure of human p53R2, a p53-inducible ribonucleotide reductase . Biochemistry Nov. 24, 2009
Zhou B, Su L, Yuan YC, Un F, Wang N, Patel M, Xi B, Hu S, Yen Y Structural basis on the dityrosyl-diiron radical cluster and the functional differences of human ribonucleotide reductase small subunits hp53R2 and hRRM2. Mol Cancer Ther June 1, 2010

Last modification of this entry: Oct. 6, 2010.

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