G6PC1 Chromosome 17
Glucose-6-phosphatase catalytic subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
Glucose 6-phosphatases, catalytic
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000131482
Associated Conditions (9)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease
type I
G6PC1-related disorder
Inborn genetic diseases
Hypoglycemia
Short stature
Increased hepatic glycogen content
Hepatocellular carcinoma
Key Variants
RS104894571
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS137978566
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS1401928680
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS140224951
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS144652516
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS145172999
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS149486847
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease, type I
Health Risk
RS1597991733
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS199505156
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, G6PC1-related disorder, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS367816430
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, G6PC1-related disorder, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS368282218
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, G6PC1-related disorder, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Health Risk
RS368450665
Conflicting classifications of pathogenicity
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease, type I
Health Risk
All Variants (157)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS367727229 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS375212414 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS768803329 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS80356482 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease, type I |
| RS80356484 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Hepatocellular carcinoma, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS80356485 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS80356486 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |