RRM2B wt Allele

Preferred Label : RRM2B wt Allele;

NCIt synonyms : P53R2; MTDPS8A; PEOA5; MTDPS8B; Ribonucleotide Reductase M2 B (TP53 Inducible) wt Allele;

NCIt definition : Human RRM2B wild-type allele is located in the vicinity of 8q23.1 and is approximately 35 kb in length. This allele, which encodes ribonucleoside-diphosphate reductase subunit M2 B protein, is involved in generation of deoxyribonucleoside diphosphates. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy.;

GenBank Accession Number : AB036532;

Details

Origin ID

C104771;

UMLS CUI

C3540572;

OMIM relation
- Ribonucleotide reductase regulatory tp53 inducible subunit m2b [OMIM gene]
See also inter- (CISMeF)
- Progressive external ophthalmoplegia, autosomal dominant, type 5 [ICD-11 More detail]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- E2F Transcription Factor Pathway [NCIt concept]
- Glutathione Metabolism Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyrimidine Metabolism Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation [NCIt concept]
- DNA Replication [NCIt concept]
- DNA Synthesis [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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