Ribonucleotide-diphosphate reductase subunit M2 B is an enzyme that in humans is encoded by the RRM2B gene. [5] [6] [7] [8] The gene encoding the RRM2B protein is located on chromosome 8, at position 8q23.1. The gene and its products are also known by designations MTDPS8A, MTDPS8B, and p53R2.

2024年12月25日 · RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B) is a Protein Coding gene. Diseases associated with RRM2B include Mitochondrial Dna Depletion Syndrome 8A and Rod-Cone Dystrophy, Sensorineural Deafness, …

The RRM2B gene provides instructions for making one piece, called the p53 inducible small subunit (p53R2), of a protein called ribonucleotide reductase (RNR). Learn about this gene and related health conditions.

该基因的突变与常染色体隐性遗传线粒体 DNA 耗竭综合征、常染色体显性遗传进行性外眼肌麻痹 5 和线粒体神经胃肠脑病有关。 已经描述了选择性剪接的转录变体。 [RefSeq 提供，2010 年 2 月] This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric Enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates.

Our study is the first to report the critical role of RRM2B in mitochondrial homeostasis and the inflammation signaling pathway in a p53-independent manner. Furthermore, our study provides novel insights into the role of the RR in inflammatory diseases.

RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple body systems. It is associated with brain dysfunction combined with muscle weakness (encephalomyopathy).

2025年2月9日 · Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern. Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.

2012年11月8日 · RRM2B is the DNA damage-inducible small subunit of ribonucleotide reductase, the rate-limiting enzyme in de novo deoxyribonucleoside triphosphate synthesis. Although RRM2B is implicated in DNA...

2007年5月7日 · Studying seven cases of profound mtDNA depletion (1–2% residual mtDNA in muscle) in four unrelated families, we have found nonsense, missense and splice-site mutations and in-frame deletions of the...

The RRM2B gene encodes the small subunit of p53 (191170)-inducible ribonucleotide reductase, a heterotetrameric enzyme responsible for de novo conversion of ribonucleoside diphosphates into the corresponding deoxyribonucleoside diphosphates that are essential for DNA synthesis (Bourdon et al., 2007).