phosphoenolpyruvate carboxykinase, cytosolic [GTP] [Homo sapiens]

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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. [Orphanet J Rare Dis. 2023]
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Al Busaidi M, Mohamed FE, Al-Ajmi E, Al Hashmi N, Al-Thihli K, Al Futaisi A, Al Mamari W, Al-Murshedi F, Al-Jasmi F. Orphanet J Rare Dis. 2023 Nov 3; 18(1):344. Epub 2023 Nov 3.
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency. [Mol Genet Metab. 2022]
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency.
Goetz M, Schröter J, Dattner T, Brennenstuhl H, Lenz D, Opladen T, Hörster F, Okun JG, Hoffmann GF, Kölker S, et al. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):18-25. Epub 2022 Jul 11.
Self-acetylation at the active site of phosphoenolpyruvate carboxykinase (PCK1) controls enzyme activity. [J Biol Chem. 2021]
Self-acetylation at the active site of phosphoenolpyruvate carboxykinase (PCK1) controls enzyme activity.
Latorre-Muro P, Baeza J, Hurtado-Guerrero R, Hicks T, Delso I, Hernández-Ruiz C, Velázquez-Campoy A, Lawton AJ, Angulo J, Denu JM, et al. J Biol Chem. 2021 Jan-Jun; 296:100205. Epub 2021 Jan 21.

RefSeq genomic sequence
See the genomic reference sequence for the PCK1 gene (NG_008205.1).
RefSeq mRNA
See reference mRNA sequence for the PCK1 gene (NM_002591.4).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the PCK1 gene.

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NP_002582 [Domain Mapping of Disease Mut...]
NP_002582
Domain Mapping of Disease Mutations
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