background:
This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia).
Function:
Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake.
Subcellular Location:
Cytoplasm. Membrane; Single-pass membrane protein (Potential). Microsome membrane; Single-pass membrane protein (By similarity). Mitochondrion membrane; Single-pass membrane protein. Rough endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Note=Its enzymatic activity contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment.
Tissue Specificity:
Expressed in brain.
DISEASE:
Defects in NAT8L are the cause of N-acetylaspartate deficiency (NACED) [MIM:614063]. A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly.
Similarity:
Belongs to the camello family.
Contains 1 N-acetyltransferase domain.
Database links:
Entrez Gene: 339983 Human
Entrez Gene: 269642 Mouse
Omim: 610647 Human
SwissProt: Q8N9F0 Human
SwissProt: Q3UGX3 Mouse
Unigene: 318529 Human
Unigene: 274610 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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