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NAA15

Chr 4q31.1

N-alpha-acetyltransferase 15, NatA auxiliary subunit

Aliases:
TBDN100, NATH, FLJ13340
MANE:
ENST00000296543.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • intellectual disability, autosomal dominant 50

    0.79
  • hereditary disease

    0.54
  • Intellectual disability

    0.52
  • neurodevelopmental disorder

    0.46
  • neurodegenerative disease

    0.45
  • syndromic intellectual disability

    0.40
  • complex neurodevelopmental disorder

    0.37
  • Global developmental delay

    0.34
  • Neurodevelopmental delay

    0.34
  • autism

    0.34

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

Protein function (UniProt)

N-alpha-acetyltransferase 15, NatA auxiliary subunit

Auxillary subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase (NAT) activity (PubMed:15496142, PubMed:20154145, PubMed:29754825, PubMed:32042062). The NAT activity may be important for vascular, hematopoietic and neuronal growth and development (PubMed:15496142). Required to control retinal neovascularization in adult ocular endothelial cells (PubMed:11687548). In complex with XRCC6 and XRCC5 (Ku80), up-regulates transcription from the osteocalcin promoter (PubMed:12145306)

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.