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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
Chromosome X Β· Xq28
NCBI Gene: 8260Ensembl: ENSG00000102030.17HGNC: HGNC:18704UniProt: B7Z9N2
183PubMed Papers
22Diseases
0Drugs
34Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-N-terminal amino-acid acetyltransferase activityacetyltransferase activityribosome bindingprotein bindingOgden syndromePremature aging appearance-developmental delay-cardiac arrhythmia syndromeMicrophthalmia - ankyloblepharon - intellectual disabilityIntellectual disability
✦AI Summary

NAA10 (N-alpha-acetyltransferase 10) is the catalytic subunit of the NatA complex, catalyzing N-terminal acetylation of approximately 40-50% of human proteins 1. It acetylates amino termini devoid of initiator methionine and performs lysine-specific acetylation of internal protein residues 1. Beyond canonical acetyltransferase activity, NAA10 functions as a lactyl-transferase, modifying target proteins in response to cellular metabolic conditions 2. Mechanistically, NAA10 regulates diverse cellular processes including protein stability, chaperone function, and cell cycle control. It stabilizes tumor suppressors like TSC2 and represses oncogenic kinases such as MYLK, thereby limiting cancer cell migration 1. NAA10 also promotes ferroptosis in cancer cells through multiple axes, including NSUN2 lactylation and HMOX1-dependent pathways 23. Pathogenic NAA10 variants cause neurodevelopmental disorders collectively termed NAA10-related syndrome, characterized by intellectual disability, autism spectrum disorder, seizures, cardiac anomalies, and craniofacial dysmorphology 45. Conversely, NAA10 overexpression in cancers correlates with poor prognosis, enhanced epithelial-mesenchymal transition, and resistance to cell death 6. NAA10 variants are also implicated in Jeavons syndrome (epilepsy with eyelid myoclonia) 7, suggesting tissue-specific developmental requirements for proper N-terminal acetylation.

Sources cited
1
NAA10 is the catalytic subunit of NatA complex responsible for N-terminal acetylation of 40-50% of human proteome
PMID: 40558489
2
NAA10 functions as a lactyl-transferase of NSUN2, activating it in response to lactate and promoting ferroptosis resistance through GCLC-GSH pathway
PMID: 39742570
3
NAA10 acetyltransferase activity promotes ferroptosis through acetyl-CoA to HMG-CoA conversion pathway
PMID: 38574881
4
NAA10 variants cause neurodevelopmental syndrome with intellectual disability, seizures, cardiac anomalies, and visual abnormalities; demonstrates multi-organ system effects
PMID: 37130971
5
NAA10-related syndrome is an X-linked condition with phenotypic variability ranging from severe developmental impairment to intellectual disability with cardiovascular findings
PMID: 30054457
6
High NAA10 expression in renal cell carcinoma correlates with advanced stage, metastasis, poor survival, and epithelial-mesenchymal transition
PMID: 38340582
7
NAA10 variations may occur in patients with Jeavons syndrome (epilepsy with eyelid myoclonia)
PMID: 34167046
8
Loss of N-terminal acetylation by NAA10 is associated with developmental defects in multiple species including humans
PMID: 30054454
Disease Associationsβ“˜22
Ogden syndromeOpen Targets
0.80Strong
Premature aging appearance-developmental delay-cardiac arrhythmia syndromeOpen Targets
0.74Strong
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.61Moderate
Intellectual disabilityOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.49Moderate
NAA10-related syndromeOpen Targets
0.44Moderate
microphthalmia, Lenz typeOpen Targets
0.37Weak
Severe intellectual disabilityOpen Targets
0.34Weak
Neurodevelopmental disorderOpen Targets
0.30Weak
syndromic microphthalmiaOpen Targets
0.19Weak
rheumatoid arthritisOpen Targets
0.15Weak
Kleine-Levin SyndromeOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
Griscelli diseaseOpen Targets
0.10Suggestive
Griscelli disease type 3Open Targets
0.09Suggestive
Griscelli syndrome type 3Open Targets
0.09Suggestive
ringed hair diseaseOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
uncombable hair syndromeOpen Targets
0.08Suggestive
Microphthalmia, syndromic, 1UniProt
N-terminal acetyltransferase deficiencyUniProt
Pathogenic Variants34
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser)Pathogenic
Ogden syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 87
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)Pathogenic
Ogden syndrome|Intellectual disability|NAA10-related syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 128
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)Pathogenic
Ogden syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 39
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)Likely pathogenic
Ogden syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 72
NM_003491.4(NAA10):c.376C>G (p.Leu126Val)Likely pathogenic
not provided|Ogden syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 126
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)Pathogenic
Inborn genetic diseases|Ogden syndrome|not provided|Intellectual disability|See cases|NAA10-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 83
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)Pathogenic
not provided|Ogden syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 128
NM_003491.4(NAA10):c.248G>A (p.Arg83His)Pathogenic
Intellectual disability|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 83
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)Pathogenic
Ogden syndrome|not provided|NAA10-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 116
NM_003491.4(NAA10):c.47A>C (p.His16Pro)Pathogenic
Severe intellectual disability|Intellectual disability|Neurodevelopmental disorder|Microphthalmia, syndromic 1
β˜…β˜…β˜†β˜†2022β†’ Residue 16
NM_003491.4(NAA10):c.*39A>GPathogenic
Microphthalmia, syndromic 1|not provided
β˜…β˜…β˜†β˜†2022
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)Pathogenic
Ogden syndrome|not provided
β˜…β˜…β˜†β˜†2019β†’ Residue 128
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro)Pathogenic
Ogden syndrome|Microphthalmia, syndromic 1
β˜…β˜…β˜†β˜†β†’ Residue 37
NM_003491.4(NAA10):c.445C>G (p.Arg149Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 149
NM_003491.4(NAA10):c.50G>A (p.Cys17Tyr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 17
NM_003491.4(NAA10):c.236G>A (p.Arg79His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 79
NM_003491.4(NAA10):c.226G>A (p.Ala76Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 76
NM_003491.4(NAA10):c.387-1G>ALikely pathogenic
Ogden syndrome|Nonpapillary renal cell carcinoma
β˜…β˜†β˜†β˜†2023
NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)Likely pathogenic
Ogden syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 43
NM_003491.4(NAA10):c.49T>G (p.Cys17Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 17
View on ClinVar β†—
Related Genes
ZNG1FShared pathway100%ZNG1CShared pathway100%CISD3Shared pathway100%ZNG1EShared pathway100%IBA57Shared pathway100%ZNG1BShared pathway100%
Tissue Expression6 tissues
Lung
100%
Liver
91%
Ovary
73%
Heart
55%
Brain
45%
Bone Marrow
40%
Gene Interaction Network
Click a node to explore
NAA10ZNG1FZNG1CCISD3ZNG1EIBA57ZNG1B
PROTEIN STRUCTURE
Preparing viewer…
PDB9FPZ Β· 2.69 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.83Intermediate
Observed/Expected LoF0.31 [0.17–0.62]
RankingsWhere NAA10 stands among ~20K protein-coding genes
  • #2,368of 20,598
    Most Researched183 Β· top quartile
  • #1,694of 5,498
    Most Pathogenic Variants34
  • #4,301of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedNAA10
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Epilepsy With Eyelid Myoclonia (Jeavons Syndrome).
PMID: 34167046
Pediatr Neurol Β· 2021
1.00
2
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
PMID: 37130971
Eur J Hum Genet Β· 2023
0.90
3
NSUN2 lactylation drives cancer cell resistance to ferroptosis through enhancing GCLC-dependent glutathione synthesis.
PMID: 39742570
Redox Biol Β· 2025
0.80
4
NAA10-related syndrome.
PMID: 30054457
Exp Mol Med Β· 2018
0.70
5
A four-year-old girl with pathogenic variant in the NAA10 gene and precocious puberty - case report and literature review.
PMID: 38940118
Ann Agric Environ Med Β· 2024
0.68