G6PC1 wt Allele

Preferred Label : G6PC1 wt Allele;

NCIt synonyms : G6Pase; G6PT; Glycogen Storage Disease Type I, Von Gierke Disease Gene; Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) Gene; GSD1; Glucose-6-Phosphatase Catalytic Subunit 1 wt Allele; G6PC; Glucose-6-Phosphatase, Catalytic, 1 Gene; GSD1a; Glucose-6-Phosphatase, Catalytic Gene;

NCIt definition : Human G6PC1 wild-type allele is located in the vicinity of 17q21.31 and is approximately 14 kb in length. This allele, which encodes glucose-6-phosphatase catalytic subunit 1 protein, plays a role in the terminal step of glycogenolysis and gluconeogenesis. Mutations in the gene are associated with glycogen storage disease 1A.;

GenBank Accession Number : U01120;

Détails

Origin ID

C217388;

OMIM relation
- Glucose-6-phosphatase, catalytic [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17q21.31 [NCIt concept]
gene_is_element_in_pathway
- Adipocytokine Signaling Pathway [NCIt concept]
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- FOXO Transcription Factor Family Signaling Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Insulin Resistance Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Gluconeogenic Process [NCIt concept]
- Glycogenolysis Inhibition [NCIt concept]
- Homeostatic Process [NCIt concept]
- Hydrolysis [NCIt concept]

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