The 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.
Other Names
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
Related Genetics Topics
- Mitochondrial neurogastrointestinal encephalopathy disease — MedlinePlus Genetics
- Progressive external ophthalmoplegia — MedlinePlus Genetics
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 50484
- OMIM: 604712
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
