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NAA60

Chr 16p13.3

N-alpha-acetyltransferase 60, NatF catalytic subunit

Aliases:
FLJ14154, HAT4, NatF, hNaa60
MANE:
ENST00000407558.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal
  • White matter disorders and cerebral calcification - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • basal ganglia calcification, idiopathic, 9, autosomal recessive

    0.68
  • bilateral striopallidodentate calcinosis

    0.38
  • neurodegenerative disease

    0.15
  • infection

    0.04
  • cleft lip

    0.02
  • cleft palate

    0.02
  • cancer

    0.01
  • gestational diabetes

    0.01
  • type 2 diabetes mellitus

    0.00
  • colorectal carcinoma

    0.00

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

Protein function (UniProt)

N-alpha-acetyltransferase 60

N-alpha-acetyltransferase that specifically mediates the acetylation of N-terminal residues of the transmembrane proteins, with a strong preference for N-termini facing the cytosol (PubMed:25732826, PubMed:38480682). Displays N-terminal acetyltransferase activity towards a range of N-terminal sequences including those starting with Met-Lys, Met-Val, Met-Ala and Met-Met (PubMed:21750686, PubMed:25732826, PubMed:27320834, PubMed:27550639). Required for normal chromosomal segregation during anaphase (PubMed:21750686). May also show histone acetyltransferase activity; such results are however unclear in vivo and would require additional experimental evidences (PubMed:21981917)

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.