NAA10 Chromosome X
N-alpha-acetyltransferase 10, NatA catalytic subunit
Upload your DNA to see your personal genotypes for variants in NAA10.
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 an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
"N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000102030
Associated Conditions (14)
Inborn genetic diseases
Ogden syndrome
Microphthalmia
syndromic 1
Intellectual disability
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
NAA10-related disorder
See cases
Severe intellectual disability
Neurodevelopmental disorder
NAA10-related syndrome
Key Variants
RS1057518605
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ogden syndrome, Microphthalmia
Health Risk
RS1057524031
Conflicting classifications of pathogenicity
Intellectual disability, Ogden syndrome, Intellectual disability
Health Risk
RS1342269961
Conflicting classifications of pathogenicity
Microphthalmia, syndromic 1, Microphthalmia
Health Risk
RS150971216
Conflicting classifications of pathogenicity
Health Risk
RS2065162324
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ogden syndrome, Thyroid cancer
Health Risk
RS2065169457
Conflicting classifications of pathogenicity
Ogden syndrome, Nonpapillary renal cell carcinoma, Ogden syndrome
Health Risk
RS2065169655
Conflicting classifications of pathogenicity
Ogden syndrome, NAA10-related disorder, Ogden syndrome
Health Risk
RS2148534324
Conflicting classifications of pathogenicity
Microphthalmia, syndromic 1, Microphthalmia
Health Risk
RS2148535236
Conflicting classifications of pathogenicity
Ogden syndrome, Ogden syndrome
Health Risk
RS2148537138
Conflicting classifications of pathogenicity
Ogden syndrome, Microphthalmia, syndromic 1
Health Risk
RS2148537151
Conflicting classifications of pathogenicity
Health Risk
RS2521321260
Conflicting classifications of pathogenicity
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518605 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Ogden syndrome, Microphthalmia |
| RS1057524031 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Ogden syndrome, Intellectual disability |
| RS1342269961 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, syndromic 1, Microphthalmia |
| RS150971216 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2065162324 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Ogden syndrome, Thyroid cancer |
| RS2065169457 | Health Risk | Conflicting classifications of pathogenicity | Ogden syndrome, Nonpapillary renal cell carcinoma, Ogden syndrome |
| RS2065169655 | Health Risk | Conflicting classifications of pathogenicity | Ogden syndrome, NAA10-related disorder, Ogden syndrome |
| RS2148534324 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, syndromic 1, Microphthalmia |
| RS2148535236 | Health Risk | Conflicting classifications of pathogenicity | Ogden syndrome, Ogden syndrome |
| RS2148537138 | Health Risk | Conflicting classifications of pathogenicity | Ogden syndrome, Microphthalmia, syndromic 1 |
| RS2148537151 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2521321260 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375877098 | Health Risk | Conflicting classifications of pathogenicity | NAA10-related disorder, NAA10-related disorder |
| RS375971315 | Health Risk | Conflicting classifications of pathogenicity | NAA10-related disorder, NAA10-related disorder |
| RS781871487 | Health Risk | Conflicting classifications of pathogenicity | Ogden syndrome, Ogden syndrome |
| RS782413408 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057518018 | Health Risk | Likely pathogenic | — |
| RS1057519448 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS1557107264 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS1557107462 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS1557107957 | Health Risk | Likely pathogenic | — |
| RS1603289772 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 1, Microphthalmia |
| RS1603290291 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS1603290816 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS2148535042 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS2148535277 | Health Risk | Likely pathogenic | — |
| RS2148536705 | Health Risk | Likely pathogenic | — |
| RS863225427 | Health Risk | Likely pathogenic | Ogden syndrome, Ogden syndrome, Ogden syndrome |
| RS1557107528 | Health Risk | Pathogenic | Ogden syndrome, Ogden syndrome |
| RS1569546255 | Health Risk | Pathogenic | Ogden syndrome, Ogden syndrome |
| RS2065158556 | Health Risk | Pathogenic | Ogden syndrome, Ogden syndrome |
| RS2065171820 | Health Risk | Pathogenic | Microphthalmia, syndromic 1, Ogden syndrome |
| RS387906701 | Health Risk | Pathogenic | Ogden syndrome, Microphthalmia, syndromic 1 |
| RS587776457 | Health Risk | Pathogenic | Microphthalmia, syndromic 1, Microphthalmia |
| RS587780562 | Health Risk | Pathogenic | Ogden syndrome, Ogden syndrome |
| RS797044868 | Health Risk | Pathogenic | Inborn genetic diseases, Ogden syndrome, Intellectual disability |
| RS878853263 | Health Risk | Pathogenic | Ogden syndrome, Ogden syndrome, Ogden syndrome |
| RS1557107543 | Health Risk | Pathogenic/Likely pathogenic | Ogden syndrome, Inborn genetic diseases, Ogden syndrome |
| RS1557107942 | Health Risk | Pathogenic/Likely pathogenic | Ogden syndrome, Ogden syndrome |
| RS1603289774 | Health Risk | Pathogenic/Likely pathogenic | Microphthalmia, syndromic 1, Microphthalmia |
| RS1603290366 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2065185202 | Health Risk | Pathogenic/Likely pathogenic | Severe intellectual disability, Intellectual disability, Neurodevelopmental disorder |
| RS587780563 | Health Risk | Pathogenic/Likely pathogenic | Ogden syndrome, NAA10-related disorder, Ogden syndrome |
| RS878853264 | Health Risk | Pathogenic/Likely pathogenic | Ogden syndrome, Intellectual disability, NAA10-related syndrome |