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glucose-6-phosphatase catalytic subunit OKDB#: 5538
 Symbols: G6PC Species: human
 Synonyms: G6PT, GSD1, G6PC1, GSD1a, G6Pase  Locus: 17q21.31 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
General function
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Cellular localization
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Ovarian function
Comment Gonadotrophins stimulate lactate production by rat cumulus and granulosa cells. Billig H et al. (1983) Oocyte-cumulus complexes and mural granulosa cells, respectively, isolated from pre-ovulatory rat follicles and cultured in lactate-free medium showed a continuous accumulation of lactate during a 1 to 7 h incubation. Lactate production was stimulated by gonadotrophins, both when administered in vivo and in vitro, with the exception that LH given in vivo did not affect granulosa cell lactate production. Since the oocyte is known to have specific demands on energy substrate, it is suggested that the lactate produced is important for the growing and maturing oocyte.//////////////////
Expression regulated by
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Ovarian localization
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Follicle stages
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Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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created: Feb. 6, 2018, 9:59 a.m. by: system   email:
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last update: Feb. 6, 2018, 10:02 a.m. by: hsueh    email:



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