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G6PC1 glucose-6-phosphatase catalytic subunit 1

Gene ID: 2538, updated on 28-Nov-2021
Gene type: protein coding
Also known as: G6PC; G6PT; GSD1; GSD1a; G6Pase

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]

Genomic context

Location:
17q21.31
Sequence:
Chromosome: 17; NC_000017.11 (42900799..42914438)
Total number of exons:
5

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