NAA15 Chromosome 4
N-alpha-acetyltransferase 15, NatA auxiliary subunit
Upload your DNA to see your personal genotypes for variants in NAA15.
What This Gene Does
N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
"N-alpha-acetyltransferase subunits|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
4q31.1
Ensembl
ENSG00000164134
Associated Conditions (11)
Intellectual disability
autosomal dominant 50
Inborn genetic diseases
NAA15-related disorder
Neurodevelopmental disorder
See cases
NAA15-related syndrome
intellectual developmental disorder-50 with behavioral abnormalities (MRD50)
Autism
Neurodevelopmental delay
Global developmental delay
Key Variants
RS1216271983
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 50, Intellectual disability
Health Risk
RS1560965164
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 50, Intellectual disability
Health Risk
RS201001193
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS201822171
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 50, Inborn genetic diseases
Health Risk
RS202230897
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, Inborn genetic diseases
Health Risk
RS2110895965
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 50, Inborn genetic diseases
Health Risk
RS2110934149
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 50, Intellectual disability
Health Risk
RS2530368724
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 50
Health Risk
RS369324677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370432537
Conflicting classifications of pathogenicity
Inborn genetic diseases, NAA15-related disorder, Intellectual disability
Health Risk
RS575715969
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS775375543
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (113)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2530441729 | Health Risk | Pathogenic | — |
| RS2530464633 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2530464721 | Health Risk | Pathogenic | — |
| RS2530480700 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS761336394 | Health Risk | Pathogenic | — |
| RS886041097 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 50, Intellectual disability |
| RS889543097 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 50, Intellectual disability |
| RS1179904078 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 50, Intellectual disability |
| RS1270628305 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 50, Intellectual disability |
| RS2110957137 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 50, Intellectual disability |
| RS2110977610 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2530391608 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS779009256 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 50, See cases |