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- Table of Contents
Facts about N-acetylglutamate synthase, mitochondrial.
Human | |
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Gene Name: | NAGS |
Uniprot: | Q8N159 |
Entrez: | 162417 |
Belongs to: |
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acetyltransferase family |
AGAS; Amino-acid acetyltransferase; ARGA; EC 2.3.1.1; MGC133025; N-acetylglutamate synthase; N-acetylglutamate synthase, mitochondrial; NAT7
Mass (kDA):
58.156 kDA
Human | |
---|---|
Location: | 17q21.31 |
Sequence: | 17; NC_000017.11 (44004546..44009068) |
Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue.
Mitochondrion matrix.
PMID: 12754705 by Haeberle J., et al. Mutation analysis in patients with N-acetylglutamate synthase deficiency.
PMID: 12459178 by Caldovic L., et al. Cloning and expression of the human N-acetylglutamate synthase gene.