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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NAA20
N-alpha-acetyltransferase 20, NatB catalytic subunit
Chromosome 20 Β· 20p11.23
NCBI Gene: 51126Ensembl: ENSG00000173418.12HGNC: HGNC:15908UniProt: A8MZB2
32PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuscytosolcytoplasmintellectual developmental disorder, autosomal recessive 73neurodegenerative diseaseautosomal recessive non-syndromic intellectual disabilityliver disease
✦AI Summary

NAA20 encodes the catalytic subunit of the NatB complex, which catalyzes N-terminal acetylation of approximately 20% of the human proteome 1. The enzyme specifically acetylates proteins beginning with Met-Asp, Met-Glu, Met-Asn, and Met-Gln sequences 1. NAA20 functions as part of a heterodimeric complex with the auxiliary subunit NAA25, which is essential for enzymatic activity and increases substrate affinity 2. The NatB complex operates co-translationally and is highly conserved across eukaryotes 2. Disease-wise, biallelic missense variants in NAA20 cause autosomal recessive intellectual developmental disorder characterized by developmental delay, intellectual disability, and microcephaly 13. These pathogenic variants impair NatB complex formation and reduce catalytic activity toward substrates 1. Beyond developmental roles, NAA20 contributes to cancer progression by regulating the LKB1-AMPK-mTOR signaling axis in hepatocellular carcinoma 4. The enzyme also plays crucial roles in cell cycle regulation and DNA replication initiation, with depletion leading to senescence 5. Additionally, NAA20-mediated N-terminal acetylation protects alpha-synuclein from proteasomal degradation, suggesting therapeutic relevance for Parkinson's disease 6.

Sources cited
1
NAA20 is the catalytic subunit of NatB complex that acetylates 20% of human proteome and causes intellectual developmental disorder when mutated
PMID: 34230638
2
NAA20 functions with NAA25 in a heterodimeric complex that is conserved across eukaryotes and increases substrate affinity
PMID: 33398031
3
NAA20 variants expand the phenotype to include epilepsy and various neurological features
PMID: 37191084
4
NAA20 contributes to hepatocellular carcinoma through LKB1-AMPK-mTOR axis regulation
PMID: 33219302
5
NAA20 depletion affects cell cycle regulation and DNA replication initiation leading to senescence
PMID: 37240070
6
NAA20-mediated N-terminal acetylation protects alpha-synuclein from proteasomal degradation
PMID: 38335281
Disease Associationsβ“˜21
intellectual developmental disorder, autosomal recessive 73Open Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.38Weak
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.37Weak
liver diseaseOpen Targets
0.19Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.16Weak
glomerulonephritisOpen Targets
0.09Suggestive
ShockOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
macular degenerationOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
device complicationOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
microcephalyOpen Targets
0.01Suggestive
Intellectual disabilityOpen Targets
0.01Suggestive
Intellectual developmental disorder, autosomal recessive 73UniProt
Pathogenic Variants2
NM_016100.5(NAA20):c.160A>G (p.Met54Val)Likely pathogenic
Intellectual developmental disorder, autosomal recessive 73
β˜…β˜†β˜†β˜†2024β†’ Residue 54
NM_016100.5(NAA20):c.239C>T (p.Ala80Val)Pathogenic
Intellectual developmental disorder, autosomal recessive 73
β˜†β˜†β˜†β˜†2022β†’ Residue 80
View on ClinVar β†—
Related Genes
NAA15Protein interaction100%NAA16Protein interaction100%NAA10Protein interaction93%NAA50Protein interaction93%NAA35Protein interaction92%NAA40Protein interaction91%
Tissue Expression6 tissues
Heart
100%
Liver
87%
Brain
79%
Bone Marrow
69%
Lung
53%
Ovary
46%
Gene Interaction Network
Click a node to explore
NAA20NAA15NAA16NAA10NAA50NAA35NAA40
PROTEIN STRUCTURE
Preparing viewer…
PDB7STX Β· 3.14 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.39LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.60–1.39]
RankingsWhere NAA20 stands among ~20K protein-coding genes
  • #11,554of 20,598
    Most Researched32
  • #4,505of 5,498
    Most Pathogenic Variants2
  • #14,444of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedNAA20
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structural basis of Naa20 activity towards a canonical NatB substrate.
PMID: 33398031
Commun Biol Β· 2021
1.00
2
NatB-Mediated N-Terminal Acetylation Affects Growth and Biotic Stress Responses.
PMID: 31744933
Plant Physiol Β· 2020
0.90
3
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
PMID: 34230638
Genet Med Β· 2021
0.80
4
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
PMID: 37191084
Clin Genet Β· 2023
0.70
5
Naa20, the catalytic subunit of NatB complex, contributes to hepatocellular carcinoma by regulating the LKB1-AMPK-mTOR axis.
PMID: 33219302
Exp Mol Med Β· 2020
0.60