NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit
Gene ID: 8260, updated on 17-Mar-2024Gene type: protein coding
Also known as: MAA; TE2; ARD1; LZMS; NATD; ARD1A; ARD1P; OGDNS; hARD1; DXS707; MCOPS1
- See all available tests in GTR for this gene
- Go to complete Gene record for NAA10
- Go to Variation Viewer for NAA10 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Microphthalmia, syndromic 1 | See labs |
| Ogden syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-08-09) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2022-08-09) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (153929225..153935037, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NAA10 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NAA10 @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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