NAT10
Chr 11N-acetyltransferase 10
Also known as: ALP, Kre33, NET43
NAT10 encodes an RNA cytidine acetyltransferase that catalyzes N(4)-acetylcytidine modifications on mRNAs, rRNAs and tRNAs, enhancing mRNA stability and translation efficiency, and is required for early ribosomal RNA processing during ribosome biogenesis. Mutations cause autosomal recessive microcephaly, early-onset seizures, and severe developmental delays. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
186 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 118 | 4 | 1 | 123 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 2 | 2 | 5 | 9 |
| Total | 0 | 122 | 24 | 7 | 153 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NAT10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools