Aliases for NAT8L Gene
External Ids for NAT8L Gene
Previous GeneCards Identifiers for NAT8L Gene
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). [provided by RefSeq, Dec 2010]
GeneCards Summary for NAT8L Gene
NAT8L (N-Acetyltransferase 8-Like (GCN5-Related, Putative)) is a Protein Coding gene. Diseases associated with NAT8L include n-acetylaspartate deficiency and canavan disease. Among its related pathways are Metabolism and Alanine, aspartate and glutamate metabolism. GO annotations related to this gene include N-acetyltransferase activity and aspartate N-acetyltransferase activity. An important paralog of this gene is NAT8.
UniProtKB/Swiss-Prot for NAT8L Gene
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.