Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	1	302	4p16.3	NAT8L	N-acetyltransferase 8 like
Mouse	1	299	5 B2	Nat8l	N-acetyltransferase 8-like
Rat	1	299	14q21	Nat8l	N-acetyltransferase 8-like

Previous and Unofficial Names

CML3 | aspartate N-acetyltransferase | ANAT

Database Links
Alphafold	Q8N9F0 (Hs), Q3UGX3 (Mm)
BRENDA	2.3.1.17
Ensembl Gene	ENSG00000185818 (Hs), ENSMUSG00000048142 (Mm), ENSRNOG00000049351 (Rn)
Entrez Gene	339983 (Hs), 269642 (Mm), 289727 (Rn)
Human Protein Atlas	ENSG00000185818 (Hs)
KEGG Enzyme	2.3.1.17
KEGG Gene	hsa:339983 (Hs), mmu:269642 (Mm), rno:289727 (Rn)
OMIM	610647 (Hs)
Pharos	Q8N9F0 (Hs)
RefSeq Nucleotide	NM_178557 (Hs), NM_001001985 (Mm), NM_001191681 (Rn)
RefSeq Protein	NP_848652 (Hs), NP_001001985 (Mm), NP_001178610 (Rn)
UniProtKB	Q8N9F0 (Hs), Q3UGX3 (Mm)
Wikipedia	NAT8L (Hs)

Enzyme Reaction
EC Number: 2.3.1.17 Acetyl-CoA + L-aspartate <=> CoA + N-acetyl-L-aspartate (NAA)

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Inhibitors
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference compound 5 [Stecula et al., 2020] Hs Inhibition 6.4 pKi 3 ⤷ pKi 6.4 (Ki 4x10-7 M) [3]

Physiological Consequences of Altering Gene Expression
Knockout of the nat8l gene eliminates the brain defects that are the hallmark of human Canavan disease (ASPA deficiency). Species:  Mouse Tissue:  Brain Technique:  Constitutive gene-knockout References:  1-2

Gene Expression and Pathophysiology Comments

This enzyme is being examined as a potential druggable target for patients with Canavan disease, which is a rare neurodegenerative demyelinating disease that is caused by inherited loss-of-function mutation of aspartoacylase (ASPA; aminoacylase 2). ASPA defiiciency leads to accumulation of the critical brain metabolite N-acetyl-L-aspartate (NAA) and this is primarily responsible for the neurodegenerative symptoms of Canavan disease. Inhibitors of the N-acetyltransferase activity of NAT8L are predicterd to offer clinical utility by reversing the effect of ASPA deficiency by converting the abnormal load of NAA to L-aparagine in Canavan disease patients [3].