AlphaFold predicted structure
NAA15 · Q9BXJ9

Mean pLDDT
89.4/ 100
Confident
866 residues
Confidence breakdown
- Very high(≥ 90)78%
- Confident(70–90)12%
- Low(50–70)5%
- Very low(< 50)5%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
N-alpha-acetyltransferase 15, NatA auxiliary subunit
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedintellectual disability, autosomal dominant 50
hereditary disease
Intellectual disability
neurodevelopmental disorder
neurodegenerative disease
syndromic intellectual disability
complex neurodevelopmental disorder
Global developmental delay
Neurodevelopmental delay
autism
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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)
NAA15 · Q9BXJ9

Mean pLDDT
89.4/ 100
Confident
866 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0