Recombinant Human NAD (P) transhydrogenase, mitochondrial (NNT), partial

1. Overexpression of nicotinamide nucleotide transhydrogenase (NNT) was associated with shorter overall and disease free survival in gastric cancer. Knockdown of NNT caused significantly NADPH reduction, induced high levels of Reactive Oxygen Species and significant cell apoptosis under oxidative stress conditions such as glucose deprival and anoikis. PMID: 30059901
2. Findings suggest that NNT is essential to homeostasis of NADH and NADPH pools, anomalies of which affect HIF-1alpha- and HDAC1-dependent pathways, and hence retrograde response of mitochondria. PMID: 28478381
3. Study describes the fi rst structural model of the human NNT. The 3D model identifies functional and structural H-NNT key motifs and gain essential insight into the structural and functional effect of deleterious amino acid substitutions causing glucocorticoid de fi ciency and LVNC cardiomyopathy, as well as rare homozygote amino acid variations. PMID: 27459240
4. NNT should be sequenced in all primary adrenal insufficiencies for which the most frequent etiologies have been ruled out. As NNT is involved in oxidative stress, careful follow-up is needed to evaluate mineralocorticoid biosynthesis extent, and gonadal, heart and thyroid function. PMID: 27129361
5. identified a 6.67 Mb homozygous region harboring the NNT gene in a Dutch patient presenting with familial glucocorticoid deficiency (FGD); a novel homozygous mutation (NM_012343.3: c.1259dupG) in NNT was revealed; reviewed the literature for all the reported NNT mutations and their clinical presentation PMID: 26548497
6. This report of a novel NNT mutation, p.G200S, expands the phenotype of NNT mutations to include mineralocorticoid deficiency. It provides the first evidence that NNT mutations can cause oxidative stress and mitochondrial defects. PMID: 26070314
7. Data suggest mutations in nicotinamide nucleotide transhydrogenase (NNT) as contributory to left ventricular noncompaction (LVNC). PMID: 26025024
8. NNT mRNA expression is significantly higher in visceral fat of obese patients and correlates with body weight, BMI, % body fat, visceral and sc fat area, waist and hip circumference, and fasting plasma insulin. PMID: 23592659
9. Results suggest that NNT may have a role in ROS detoxification in human adrenal glands. PMID: 22634753
10. In the failing heart a partial loss of Nnt activity adversely impacts NADPH-dependent enzymes and the capacity to maintain membrane potential, thus contributing to a decline in bioenergetic capacity, redox regulation and antioxidant defense. PMID: 20388492
11. the expression of the transhydrogenase gene in subsections of the human brain showed a distribution that apparently varied as a function of neuronal density PMID: 12223207

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HGNC: 7863

OMIM: 607878

KEGG: hsa:23530

STRING: 9606.ENSP00000264663

UniGene: Hs.482043