QuickView for G6Pase (gene)

Gene Symbol:

G6PC Homo sapiens

Full name:

glucose-6-phosphatase catalytic subunit

Synonyms:

G6PC1, G6PT, G6Pase, GSD1, GSD1a, glucose-6-phosphatase, G-6-Pase, G6Pase-alpha, glucose-6-phosphatase alpha

Genomic Location:

Chr 17: 38306341-38318912

Description:

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-phosphatas...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Canis lupus familiaris ,  Pan troglodytes ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HNF4ALPHA_Q6 ,  FXR_Q3 ,  HNF1_01 ,  NKX3A_01 ,  YATTNATC_UNKNOWN ,  HNF1_C ,  CTTTGA_LEF1_Q2 ,  COUP_01 ,  TTAYRTAA_E4BP4_01 ,  TCF4_Q5 ,  HNF4_01 ,  TATAAA_TATA_01 ,  CREBP1_01 ,  TGTTTGY_HNF3_Q6 ,  RGTTAMWNATT_HNF1_01 ,  TGATTTRY_GFI1_01 ,  CTTTGT_LEF1_Q2 ,  HNF1_Q6 ,  TAXCREB_01

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Cytogenetic Map:

17q21.31

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