基因名:
Nat8l
产品别名:
1110038O08Rik; Shati; Nat8l; N-acetyltransferase 8-like; N-acetyltransferase 8-like; N-acetylaspartate synthetase; N-acetyltransferase 8-like protein; NAA synthase; NAA synthetase; aspartate N-acetyltransferase; protein Shati; N-乙酰转移酶8样蛋白; N-乙酰转移酶8样蛋白(NAT8L);
背景信息:
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).