NAT8L gene

N-acetyltransferase 8 like

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • N-acetylaspartate deficiency

From UniProt:

N-acetylaspartate deficiency (NACED): A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. [MIM:614063]

Cytogenetic Location: 4p16.3, which is the short (p) arm of chromosome 4 at position 16.3

Molecular Location: base pairs 2,059,512 to 2,069,089 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p16.3, which is the short (p) arm of chromosome 4 at position 16.3
  • CML3
  • NACED
  • NAT8-LIKE