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 …

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 …

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 …

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 …

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 …

RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple …

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. …

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 …

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 …

The RRM2B gene encodes the small subunit of p53 (191170)-inducible ribonucleotide reductase, a heterotetrameric enzyme responsible for de novo conversion of ribonucleoside diphosphates …