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RRM2B - ribonucleotide reductase regulatory TP53 inducible subunit M2B

Synonym(s) : p53R2
Previous symbols and names : ribonucleotide reductase M2 B (TP53 inducible)
Type : gene with protein product
Chromosomal location : 8q22.3
OMIM: 604712
HGNC: 17296
UniProtKB: Q7LG56
Genatlas: RRM2B
GenCC: RRM2B
Ensembl: ENSG00000048392
IUPHAR-DB: 2754
Reactome: Q7LG56
LOVD: RRM2B

Diseases list

Disease-causing germline mutation(s) in Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy ORPHA:329336
Disease-causing germline mutation(s) in Autosomal dominant progressive external ophthalmoplegia ORPHA:254892
Disease-causing germline mutation(s) in Kearns-Sayre syndrome ORPHA:480
Disease-causing germline mutation(s) in Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy ORPHA:255235
Disease-causing germline mutation(s) in Mitochondrial neurogastrointestinal encephalomyopathy ORPHA:298

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (125)

Research activities on this gene

Specialised Social Services

Eurordis directory

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