C5orf33
- Known as:
- C5orf33
- Catalog number:
- 003115A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C5orf33
Related genes to: C5orf33
- Gene:
- NADK2 NIH gene
- Name:
- NAD kinase 2, mitochondrial
- Previous symbol:
- C5orf33, NADKD1
- Synonyms:
- FLJ30596, MNADK
- Chromosome:
- 5p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-08-25
- Date modifiied:
- 2016-01-27
Related products to: C5orf33
Related articles to: C5orf33
- Nicotinamide adenine dinucleotide [NAD(H), consisting of its oxidized form NAD and reduced form NADH] and nicotinamide adenine dinucleotide phosphate [NADP(H), consisting of its oxidized form NADP⁺ and reduced form NADPH] are core molecular pair governing metabolic regulation, which exert central functions in modulating cellular energy metabolism, redox homeostasis and biosynthesis. The imbalance of intracellular ratio of NAD(H) to NADP(H) can lead to serious pathophysiological consequences and trigger a wide spectrum of diseases. NAD kinases (NADKs), the sole enzymes that phosphorylate NAD(H) to NADP(H), therefore sit at the hub of NAD(H)/NADP(H) balance control. Because NADP cannot cross subcellular membranes, eukaryotic NADKs are classified into two isoforms: cytosolic NADK1 and mitochondrial NADK2. The catalytic activity of NADKs is regulated at the transcriptional and post-translational modification levels, and aberrant expression or dysfunction of NADKs is closely linked to the initiation and progression of numerous diseases. Targeted intervention strategies against NADKs thus represent a promising therapeutic avenue for the clinical treatments of tumors, metabolic disorders, and other related diseases. - Source: PubMed
Cheng Si-YuPan Hong-YuWang DiJin XuCheng Qi-MeiGao Cheng-JieShi Li-Hong - Glioblastoma is an aggressive brain tumor with a median survival of only 15 months despite current therapies. Temozolomide (TMZ) is the standard chemotherapeutic due to its ability to cross the blood-brain barrier; however, acquired resistance limits its efficacy. Oxidative stress, particularly the regulation of Reactive Oxygen Species (ROS), has a dual role in tumor progression and cell death. Cancer cells tightly balance ROS through antioxidant systems fueled by NADPH, which is generated by NADK enzymes, while NADPH oxidases (NOX) produce ROS. Here, the study investigated whether disrupting NADPH homeostasis could enhance oxidative stress and induce cytotoxicity in TMZ-resistant glioblastoma. - Source: PubMed
Publication date: 2026/06/23
Celebi AsumanKilic TurkerAvsar Timucin - Reduced brain energy metabolism, mitochondria dysfunction, and extracellular tau oligomer buildup characterize Alzheimer's disease (AD), but how these phenomena cooperatively promote neurodegeneration is poorly understood. We now report that tau oligomers (TauOs) pathologically coordinate mitochondrial metabolism with increased expression of a plasma membrane (PM) tau receptor. - Source: PubMed
Pardo EvelynKim TaylorWallrabe HorstZengeler Kristine ESagar Vijay KumarMingledorff GarnettSun XuehanPeriasamy AmmasiLukens John RBloom George SNorambuena Andrés - Charcot-Marie Tooth (CMT) disease is a clinically and genetically heterogeneous inherited peripheral neuropathy for which there is no treatment. CMT patients often present with weakness, fatigue, and muscle atrophy in the distal limbs. Improving function at the neuromuscular junction (NMJ) may improve function in some CMT patients. Using mouse models, we investigated eight CMT subtypes for NMJ phenotypes by morphology and functional deficits assessed by electromyography (EMG). We did not find NMJ abnormalities in mice with mutations in Gjb1 (CMT1X), or Yars1 (diCMTC). Mice with mutations in Ighmbp2 (CMT2S) and Pla2g6 (Infantile Neuroaxonal Dystrophy) have neuromuscular phenotypes that could imply NMJ dysfunction, but we did not find defects in synaptic transmission or anatomy. A transgenic model of PMP22 overexpression (CMT1A) had EMG deficits with high frequency stimulation that are consistent with NMJ involvement. Three models showed indications of altered NMJ morphology and/or function. Gars mice, modeling CMT2D, displayed robust synaptic deficits morphologically and by EMG. Nadk2 mice, modeling an ultrarare neuromuscular disease, had an EMG phenotype coinciding with symptom onset. Nefl mice, modeling CMT2E, had normal EMG; but pre-synaptic axon terminals were dysmorphic, with large varicosities, which were more pronounced in proximal muscles. Across multiple models, we found that the extensor digitorum longus was resistant to disease phenotypes based on NMJ innervation status and/or muscle weight and atrophy. Our results indicate that some subtypes of CMT have NMJ deficits, and that assessing neuromuscular disease patients for NMJ dysfunction may reveal a population that could benefit from therapies that enhance transmission. - Source: PubMed
Publication date: 2026/05/17
Funke Jonathan RMartinez CelestePratt Samia LRice Alaura DTadenev Abigail L DBurgess Robert W - The deletion of tumor suppressor genes often occurs in a tumor-specific manner and is accompanied by the unintended loss of adjacent genes. Nicotinamide adenine dinucleotide kinase (), located at a tumor suppressive locus on chromosome 1p36, plays a pivotal role in the biosynthesis of NADP and NADPH and has a closely related paralog, , in human cells. Although synthetic lethality between NAD kinases was reported in yeast, the relationship between and in human cells remains unclear. Here, we investigated alterations of the gene expression across various tumor types and assessed whether there is a synthetic lethal relationship between these NAD kinases in human cells. Analysis of The Cancer Genome Atlas dataset revealed gene deletion in multiple tumor types. Depletion of both and using siRNA decreased cellular NADP(H) levels and inhibited cell proliferation, resulting in the induction of apoptosis. Notably, knockdown alone markedly impaired cell proliferation and NADP(H) production in homozygous-deleted tumor cells, and also reduced proliferation in heterozygous-deleted tumor cells, whereas in -intact tumor cells only de novo NADP synthesis, but not its intracellular levels or proliferation, was affected. These findings suggest that loss of the gene in tumor cells confers vulnerability to depletion. - Source: PubMed
Publication date: 2026/04/24
Suyama-Banjo SakiWatanabe KengoIshikawa HirokazuYoshihama YoheiHirota YasuhideTsutsumi Shinji