- Nags [Search on AGR]
Homo sapiens The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
- Nags [Search on AGR]
Rattus norvegicus Predicted to enable acetyl-CoA:L-glutamate N-acetyltransferase activity. Predicted to be involved in arginine biosynthetic process and glutamate metabolic process. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial matrix. Human ortholog(s) of this gene implicated in N-acetylglutamate synthase deficiency and amino acid metabolic disorder. Orthologous to human NAGS (N-acetylglutamate synthase); PARTICIPATES IN arginine and proline metabolic pathway; INTERACTS WITH (+)-schisandrin B; 1,2-dimethylhydrazine; 17beta-estradiol.
- Nags [Search on AGR]
Mus musculus PHENOTYPE: In the absence of N-carbamyl-L-glutamate and L-citrulline supplementation homozygous null mice develop severe hyperammonemia and die. [provided by MGI curators]
- Naglu [Search on AGR]
Homo sapiens This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
- Nbas [Search on AGR]
Homo sapiens This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
- Scn7a [Search on AGR]
Homo sapiens This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]