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

rs28928597 in RRM2B gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs121918308 in RRM2B gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) PMID 17486094 2007 Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

PMID 18504129 2008 Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

PMID 19667227 2009 Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

rs515726199 in RRM2B gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs28999676 in RRM2B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.