Gene Symbol | RRM2B |
Entrez Gene ID | 50484 |
Full Name | ribonucleotide reductase regulatory TP53 inducible subunit M2B |
Synonyms | MTDPS8A,MTDPS8B,P53R2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3); Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3) |