RRM2B : ribonucleotide reductase regulatory TP53 inducible subunit M2B
Description
The RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B) is a protein-coding gene located on chromosome 8.
The RRM2B gene provides instructions for creating a component of the ribonucleotide reductase (RNR) protein, specifically the p53 inducible small subunit (p53R2). This subunit combines with another protein, R1, to form RNR. RNR plays a crucial role in producing the building blocks of DNA (nucleotides), which are then assembled in a specific order to form DNA. RNRs containing the p53R2 subunit make nucleotides used in the formation of DNA within mitochondria. Mitochondria, the energy-producing centers of cells, contain their own DNA (mtDNA) which is essential for energy production. The production of nucleotides by p53R2 contributes to the maintenance of normal levels of mtDNA in cells.
RRM2B plays a crucial role in cell survival by repairing damaged DNA in a p53-dependent manner. It supplies deoxyribonucleotides, the building blocks of DNA, for repair in cells that have stopped at the G1 or G2 phases of the cell cycle. The protein contains a crucial iron-tyrosyl free radical center that enables its catalytic activity. RRM2B forms a functional ribonucleotide reductase (RNR) complex with the RRM1 protein, which is expressed in both resting and dividing cells in response to DNA damage.
RRM2B is also known as MTDPS8A, MTDPS8B, P53R2, RCDFRD.
Associated Diseases
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- Autosomal dominant progressive external ophthalmoplegia
- Mitochondrial neurogastrointestinal encephalomyopathy
- Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
- Kearns-Sayre syndrome
- Mitochondrial neurogastrointestinal encephalopathy disease
- Progressive external ophthalmoplegia
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
