LP412102-8
RRM2B gene
Active
Description
The RRM2B (ribonucleotide reductase regulatory TP53 inducible subunit M2B) gene [HGNC Gene ID: 17296] is located on chromosome 8 at position q22.3. 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][NCBI Gene ID: 50484] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- RRM2B gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-11-02
- Construct for LOINC Short Name
- RRM2B
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | RRM2B 基因 Synonyms: Ribonucleotide Reductase Regulatory TP53 诱导亚基 M2B 基因; |
| it-IT | Italian (Italy) | RRM2B, gene Synonyms: Gene RRM2B |
| nl-NL | Dutch (Netherlands) | RRM2B-gen |
| es-ES | Spanish (Spain) | Gen RRM2B |
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