NAT8L Antibody – Rabbit Polyclonal

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]

NAT8L: 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. Defects in NAT8L are the cause of N-acetylaspartate deficiency (NACED). A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. Belongs to the camello family.

Protein type: Acetyltransferase; EC 2.3.1.17; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: mitochondrion; cytoplasm; mitochondrial membrane; integral to membrane; rough endoplasmic reticulum membrane

Molecular Function: aspartate N-acetyltransferase activity

Biological Process: positive regulation of dopamine uptake; metabolic process

Disease: N-acetylaspartate Deficiency