Gene: RRM2B

Alternate names for this Gene: MTDPS8A|MTDPS8B|P53R2

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.3

Description of this Gene: ribonucleotide reductase regulatory TP53 inducible subunit M2B

Type of Gene: protein-coding

Gene: UBR5-AS1

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