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NAA20

Chr 20p11.23

N-alpha-acetyltransferase 20, NatB catalytic subunit

Aliases:
dJ1002M8.1, NAT3
MANE:
ENST00000334982.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • intellectual developmental disorder, autosomal recessive 73

    0.52
  • neurodegenerative disease

    0.38
  • autosomal recessive non-syndromic intellectual disability

    0.37
  • liver disorder

    0.13
  • alcohol drinking

    0.11
  • benign thyroid gland neoplasm

    0.09
  • urolithiasis

    0.09
  • Abnormality of the skeletal system

    0.08
  • hepatocellular carcinoma

    0.08
  • glomerulonephritis

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

N-alpha-acetyltransferase 20

Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln (PubMed:34230638). Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.