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NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit

Gene ID: 8260, updated on 19-Sep-2021
Gene type: protein coding
Also known as: TE2; ARD1; NATD; ARD1A; ARD1P; OGDNS; hARD1; DXS707; MCOPS1

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

DescriptionTests
Lenz microphthalmia syndrome
MedGen: C0796016OMIM: 309800GeneReviews: Not available
See labs
N-terminal acetyltransferase deficiency
MedGen: C3275447OMIM: 300855GeneReviews: Not available
See labs

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (153929225..153935037, complement)
Total number of exons:
8

Links

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