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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NMNAT3
nicotinamide nucleotide adenylyltransferase 3
Chromosome 3 · 3q23
NCBI Gene: 349565Ensembl: ENSG00000163864.18HGNC: HGNC:20989UniProt: A0A2R8Y594
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nicotinamide-nucleotide adenylyltransferase activitymitochondrionnicotinate-nucleotide adenylyltransferase activityNAD+ biosynthetic process via the salvage pathwayneuroendocrine neoplasmCOVID-19hyperpituitarismsevere acute respiratory syndrome
✦AI Summary

NMNAT3 (nicotinamide nucleotide adenylyltransferase 3) is a mitochondrial enzyme that catalyzes NAD+ synthesis from nicotinamide mononucleotide (NMN) and ATP, playing a crucial role in cellular NAD+ homeostasis 1. The enzyme exhibits bidirectional activity, also catalyzing the pyrophosphorolytic cleavage of NAD+ to maintain NAD+ pools during periods of excessive consumption 1. NMNAT3 functions as a mitochondrial rheostat, maintaining cellular NAD+ levels through import via SLC25A51 and reversible NAD+ cleavage when present 1. Beyond its enzymatic function, NMNAT3 serves as a stress-response chaperone protein that prevents toxic protein aggregation, independent of its NAD+ synthesis activity. The enzyme is essential for red blood cell function, as NMNAT3 deficiency causes hemolytic anemia through drastically reduced NAD+ levels and altered glycolysis 23. In disease contexts, NMNAT3 protein levels are significantly decreased in Parkinson's disease patients' caudate nucleus, correlating inversely with α-synuclein levels and contributing to neurite pathology 4. Additionally, the FOXO1-NMNAT3 axis dysregulation promotes doxorubicin cardiotoxicity through NAD+ depletion 5. These findings establish NMNAT3 as a critical regulator of cellular energy metabolism and a potential therapeutic target for metabolic and neurodegenerative diseases.

Sources cited
1
NMNAT3 acts as mitochondrial rheostat maintaining NAD+ levels through bidirectional enzymatic activity
PMID: 39702414
2
NMNAT3 deficiency causes hemolytic anemia with drastically reduced NAD+ levels in erythrocytes
PMID: 36375251
3
First reported case of NMNAT3 deficiency causing novel red cell enzymopathy with hemolytic anemia
PMID: 41100733
4
NMNAT3 protein levels are decreased in Parkinson's disease caudate nucleus, correlating with α-synuclein levels
PMID: 35397003
5
FOXO1-NMNAT3 axis dysregulation promotes doxorubicin cardiotoxicity through NAD+ depletion
PMID: 41021886
Disease Associationsⓘ20
neuroendocrine neoplasmOpen Targets
0.33Weak
COVID-19Open Targets
0.28Weak
hyperpituitarismOpen Targets
0.28Weak
severe acute respiratory syndromeOpen Targets
0.27Weak
rheumatic diseaseOpen Targets
0.27Weak
trigeminal nerve diseaseOpen Targets
0.27Weak
Genu valgumOpen Targets
0.26Weak
Genu varumOpen Targets
0.26Weak
glomerulonephritisOpen Targets
0.25Weak
urinary tract obstructionOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.23Weak
ovarian neoplasmOpen Targets
0.18Weak
Parkinson diseaseOpen Targets
0.07Suggestive
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.06Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NT5EProtein interaction93%CLSTN2Protein interaction90%NAMPTProtein interaction77%SARM1Protein interaction72%NAPRTProtein interaction63%QPRTProtein interaction63%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
50%
Heart
36%
Brain
23%
Liver
9%
Lung
6%
Gene Interaction Network
Click a node to explore
NMNAT3NT5ECLSTN2NAMPTSARM1NAPRTQPRT
PROTEIN STRUCTURE
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PDB1NUP · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.54–1.43]
RankingsWhere NMNAT3 stands among ~20K protein-coding genes
  • #13,966of 20,598
    Most Researched21
  • #14,695of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedNMNAT3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biosensor reveals multiple sources for mitochondrial NAD⁺.
PMID: 27313049
Science · 2016
1.00
2
Subcellular NAD
PMID: 39702414
Nat Metab · 2024
0.90
3
FOXO1-NMNAT3 axis dysregulation promotes doxorubicin cardiotoxicity: NAD
PMID: 41021886
Redox Rep · 2025
0.80
4
Metabolic regulation of transcription through compartmentalized NAD
PMID: 29748257
Science · 2018
0.70
5
Insight into molecular and functional properties of NMNAT3 reveals new hints of NAD homeostasis within human mitochondria.
PMID: 24155910
PLoS One · 2013
0.60