N-acetylglutamate synthase, mitochondrial isoform X1 [Homo sapiens]

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Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. [Hum Mutat. 2021]
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, et al. Hum Mutat. 2021 Dec; 42(12):1624-1636. Epub 2021 Sep 24.
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. [Sci Rep. 2018]
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, et al. Sci Rep. 2018 Oct 18; 8(1):15436. Epub 2018 Oct 18.
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. [Hum Mutat. 2016]
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, Rubio V, Häberle J. Hum Mutat. 2016 Jul; 37(7):679-94. Epub 2016 May 6.

RefSeq genomic sequence
See the genomic reference sequence for the NAGS gene (NG_023338.2).
RefSeq genomic sequence
See the genomic reference sequence for the NAGS gene (NG_008106.1).
RefSeq mRNA
See reference mRNA sequence for the NAGS gene (XM_011524438.2).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the NAGS gene.

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