NAT8L

Chr 4AR

aspartate N-acetyltransferase

Also known as: CML3, NACED, NAT8-LIKE, NAT8L

NCBI Gene: 339983 ENSG00000185818 UniProt: Q8N9F0 OMIM: 610647

This gene encodes the neuron-specific N-acetyltransferase that catalyzes the synthesis of N-acetylaspartate (NAA) from L-aspartate and acetyl-CoA, with NAA serving as a major storage and transport form of acetyl-CoA in the nervous system. Mutations cause N-acetylaspartate deficiency (hypoacetylaspartia) with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 0.86, LOEUF 0.46), indicating that such mutations are likely to have significant functional consequences.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a membrane-associated N-acetyltransferase that catalyzes the synthesis of N-acetylaspartate (NAA) from aspartate and acetyl-CoA. NAA is abundant in the nervous system where it functions as a key metabolite, playing a role in metabolism and myelination. Outside of the nervous system, this gene is also highly expressed in adipocytes where it has been implicated in lipid synthesis and turnover. Mutations in this gene may be associated with N-acetylaspartate deficiency. [provided by RefSeq, Apr 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?N-acetylaspartate deficiencyMIM #614063

Clinical highlights

Gene-disease validity (ClinGen)

N-acetylaspartate deficiency · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.46

LOEUF

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Mechanism