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MGP006683

Record overview

MGPD IDMGP006683
Gene ID162417
SpeciesHomo sapiens (Human)
Gene NameN-acetylglutamate synthase
Gene Symbol NAGS
SynonymsAGAS; ARGA;
Alternate namesN-acetylglutamate synthase, mitochondrial; amino-acid acetyltransferase;
Chromosome17
Map Location17q21.31
EC Number2.3.1.1
SummaryThe 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]
OrthologsView orthologs and multiple alignments for NAGS

Proteins

N-acetylglutamate synthase, mitochondrial
Refseq ID:NP_694551
Protein GI:23308587
UniProt ID:Q8N159
mRNA ID:NM_153006
Length:534
RefSeq Status:
MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPPEEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRS
LVQRDIQAFLNQCGASPGEARHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAPTAPSGCLSFWEAKAQLAKSC
KVLVDALRHNAAAAVPFFGGGSVLRAAEPAPHASYGGIVSVETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTASLAKALRPTKIIFLNNTGGLR
DSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAVITAASTLLTELFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFG
KKLRDDYLASLRPRLHSIYVSEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNPINPWYFKHSDGSFSNKQWIF
FWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS
 
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