Gene Symbol | NAT8L |
Entrez Gene ID | 339983 |
Full Name | N-acetyltransferase 8 like |
Synonyms | CML3,NACED,NAT8-LIKE |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?N-acetylaspartate deficiency, 614063 (3) |