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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NAT8L
N-acetyltransferase 8 like
Chromosome 4 · 4p16.3
NCBI Gene: 339983Ensembl: ENSG00000185818.8HGNC: HGNC:26742UniProt: Q8N9F0
27PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingL-aspartate N-acetyltransferase activitymitochondrial membranecytoplasmN-acetylaspartate deficiencyAbnormality of the skeletal systemmicrocephalyneoplasm
✦AI Summary

NAT8L (N-acetyltransferase 8 like) is a mitochondrial enzyme that catalyzes N-acetylaspartate (NAA) synthesis from L-aspartate and acetyl-CoA 123. Beyond its canonical metabolic role, NAT8L has emerged as a multifunctional protein with significant disease implications. In cancer biology, NAT8L and NAA levels are elevated in resistant tumors and associated with worse overall survival across multiple cancer types 4. NAT8L suppresses anti-tumor immunity by impairing cytotoxic T cell and NK cell function through NAA-mediated disruption of immunological synapse formation 5. In hepatocellular carcinoma, NAT8L downregulation paradoxically promotes proliferation by increasing cytosolic aspartate availability for purine biosynthesis and the pentose phosphate pathway 6. In neurological contexts, NAT8L protects against Alzheimer's disease pathology by modulating mitochondrial function and reducing amyloid-β toxicity 7. However, NAT8L mRNA oxidation in multiple sclerosis neurons impairs translation, reducing NAA levels and compromising myelin integrity 8. NAT8L also functions in brown adipose tissue, where it regulates lipid turnover and energy expenditure through PPARα-dependent mechanisms 9. These findings position NAT8L as a potential therapeutic target in cancer immunotherapy and neurodegenerative diseases, though its tissue-specific functions require careful consideration.

Sources cited
1
NAT8L catalyzes N-acetylaspartate synthesis from L-aspartate and acetyl-CoA
PMID: 19524112
2
NAT8L catalyzes N-acetylaspartate synthesis from L-aspartate and acetyl-CoA
PMID: 19807691
3
NAT8L catalyzes N-acetylaspartate synthesis and attenuates methamphetamine-induced inhibition of dopamine uptake
PMID: 20385109
4
NAT8L and NAA impair NK cell and CD8+ T cell cytotoxicity by disrupting immunological synapse formation in tumors
PMID: 38821061
5
NAT8L downregulation increases cytosolic aspartate delivery to promote pentose phosphate pathway and purine biosynthesis in hepatocellular carcinoma
PMID: 36580805
6
High NAT8L expression and NAA levels are associated with worse overall survival across multiple cancer types and NAT8L silencing reduces tumor growth
PMID: 26819345
7
NAT8L overexpression modulates mitochondrial function and reduces amyloid-β toxicity in Alzheimer's disease models
PMID: 40831231
8
NAT8L mRNA oxidation impairs translation in multiple sclerosis, reducing NAA levels and compromising myelin integrity
PMID: 36882060
9
NAT8L regulates lipid turnover and energy expenditure in brown adipocytes through PPARα-dependent mechanisms
PMID: 24155240
Disease Associationsⓘ21
N-acetylaspartate deficiencyOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
microcephalyOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.06Suggestive
schizophrenia 19Open Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
childhood disintegrative disorderOpen Targets
0.04Suggestive
15q11q13 microduplication syndromeOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
autismOpen Targets
0.04Suggestive
autism spectrum disorderOpen Targets
0.04Suggestive
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyOpen Targets
0.03Suggestive
early-onset autosomal dominant Alzheimer diseaseOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
COVID-19Open Targets
0.03Suggestive
depressive disorderOpen Targets
0.03Suggestive
lagophthalmosOpen Targets
0.02Suggestive
N-acetylaspartate deficiencyUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RIMKLBProtein interaction95%RIMKLAProtein interaction95%FOLH1Protein interaction93%ADSS2Protein interaction92%ASNSProtein interaction92%ASPAProtein interaction92%
Tissue Expression6 tissues
Brain
100%
Ovary
2%
Heart
2%
Liver
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
NAT8LRIMKLBRIMKLAFOLH1ADSS2ASNSASPA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N9F0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.24Tolerant
Observed/Expected LoF0.43 [0.24–0.85]
RankingsWhere NAT8L stands among ~20K protein-coding genes
  • #12,613of 20,598
    Most Researched27
  • #7,442of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedNAT8L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Tumor cells impair immunological synapse formation via central nervous system-enriched metabolite.
PMID: 38821061
Cancer Cell · 2024
1.00
2
Hindering NAT8L expression in hepatocellular carcinoma increases cytosolic aspartate delivery that fosters pentose phosphate pathway and purine biosynthesis promoting cell proliferation.
PMID: 36580805
Redox Biol · 2023
0.90
3
PMID: 31314412
0.80
4
Role of Increased n-acetylaspartate Levels in Cancer.
PMID: 26819345
J Natl Cancer Inst · 2016
0.70
5
DNA methylation status of SHATI/NAT8L promoter in the blood of cigarette smokers.
PMID: 37668111
Neuropsychopharmacol Rep · 2023
0.60