Description
Product Characteristics:
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].
Subcellular location: Cytoplasm, Nucleus
Synonyms: DKFZp686M05248, MGC102856, MGC42116, MTDPS8A, MTDPS8B, p53 inducible ribonucleotide reductase small subunit 2 homolog, p53 inducible ribonucleotide reductase small subunit 2 like protein, p53 R2, p53-inducible ribonucleotide reductase small subunit 2-like protein, p53R2, Ribonucleoside diphosphate reductase M2 subunit B, Ribonucleoside-diphosphate reductase subunit M2 B, Ribonucleotide reductase M2 B TP53 inducible, Ribonucleotide reductase M2 B, Ribonucleotide reductase small subunit like 2 p53 inducible, RIR2B_HUMAN, RRM 2B, RRM2B, TP53 inducible ribonucleotide reductase M2 B, TP53-inducible ribonucleotide reductase M2 B.
Target Information: 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]