Nmnat2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Nmnat2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
NMNAT2 (NMN Adenylyltransferase 2) encodes a crucial enzyme in NAD+ biosynthesis that plays a fundamental role in neuronal survival and axonal integrity.
| Property | Value |
|---|---|
| Symbol | NMNAT2 |
| Full Name | NMN Adenylyltransferase 2 |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 23257 |
| OMIM | 608401 |
| Ensembl ID | ENSG00000145425 |
| UniProt | Q9H0M0 |
NMNAT2 is a cytosolic enzyme that catalyzes the conversion of NMN (nicotinamide mononucleotide) to NAD+ (nicotinamide adenine dinucleotide). This reaction is the final step in the NAD+ biosynthetic pathway from nicotinamide.
| Disease | Mechanism | Inheritance |
|---|---|---|
| Wallerian Degeneration | NMNAT2 decline triggers SARM1-mediated axon degeneration after injury | - |
| Charcot-Marie-Tooth Disease (CMT2) | Rare variants associated with axonal neuropathy | Autosomal Dominant |
| Alzheimer's Disease | NAD+ depletion contributes to synaptic dysfunction and neuronal death | - |
| Parkinson's Disease | Impaired axonal maintenance may contribute to dopaminergic neuron vulnerability | - |
| ALS | Axonal transport defects and energy metabolism impairment | - |
Nmnat2 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Nmnat2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Gilley J, et al. (2015). "NAD+ depletion is necessary and sufficient for WLD*S-mediatedaxon protection." Nat Neurosci. 18:1224-1226. PMID:26189314
Sasaki Y, et al. (2016). "SARM1 is required for axonal degeneration in a Wallerian degeneration model." Cell Rep. 17:2993-3002. PMID:27984726
Conforti L, et al. (2014). "Wallerian degeneration: the Nobel-prize-winning paradigm that has become prevalent in neuroscience." Brain Res Bull. 105:4-7. PMID:24709561
Essuman K, et al. (2017). "The SARM1 Toll/Interleukin-1 Receptor Domain Possesses Intrinsic NAD+ Cleavage Activity that Promotes Pathological Axonal Degeneration." Neuron. 93:1334-1343.e5. PMID:28279355
Beirowski B, et al. (2019). "NAD+ metabolism governs mitochondrial protein acetylation in Wallerian degeneration." J Cell Biol. 218:1615-1631. PMID:30952798
See also: SARM1 Programmed Axon Degeneration Pathway, NAD+ Metabolism in Neurodegeneration, Wallerian Degeneration
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