NAA20

Chr 20

N-alpha-acetyltransferase 20, NatB catalytic subunit

Also known as: MRT73, NAT3, NAT3P, NAT5, NAT5P, dJ1002M8.1

NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal recessive 73

Clinical highlights

Gene-disease validity (ClinGen)
syndromic intellectual disability · ARModerateconsider for supplementary testing
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (2)

gnomad: TimeoutError: The operation was aborted due to timeout

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NAA20 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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