NAA30 Chromosome 14
N-alpha-acetyltransferase 30, NatC catalytic subunit
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What This Gene Does
Enables protein-N-terminal amino-acid acetyltransferase activity. Involved in protein stabilization. Located in cytosol and nucleus. Part of NatC complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"N-alpha-acetyltransferase subunits|GCN5 related N-acetyltransferases"
Locus Type
gene with protein product
Location
14q22.3
Ensembl
ENSG00000139977
Associated Conditions (1)
Lethal multiystemic syndrome
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2139756536 | Health Risk | Likely pathogenic | Lethal multiystemic syndrome, Lethal multiystemic syndrome |