G6PC1 Chromosome 17
Glucose-6-phosphatase catalytic subunit 1
Upload your DNA to see your personal genotypes for variants in G6PC1.
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 |
|---|---|---|---|
| RS2056092151 | Health Risk | Likely pathogenic | 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 |
| RS2056092654 | Health Risk | Likely pathogenic | 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 |
| RS2056095097 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2544206686 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2544208884 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2544208923 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2544213885 | Health Risk | Likely pathogenic | — |
| RS2544214315 | Health Risk | Likely pathogenic | Increased hepatic glycogen content, Increased hepatic glycogen content |
| RS374766396 | Health Risk | Likely pathogenic | 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 |
| RS750886274 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS756632286 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS759982943 | Health Risk | Likely pathogenic | 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 |
| RS761007323 | Health Risk | Likely pathogenic | 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 |
| RS763543607 | Health Risk | Likely pathogenic | 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 |
| RS764084156 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS766448695 | Health Risk | Likely pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS80356483 | Health Risk | Likely pathogenic | 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 |
| RS104894565 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS104894566 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS104894569 | Health Risk | Pathogenic | 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 |
| RS1057516367 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1057516674 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1057516858 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1057517008 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1057517227 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1189630738 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1200748845 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1204708376 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1292204269 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS140869027 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1410392732 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1414234636 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS142917638 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1485038937 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1555559279 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1555559991 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1555560128 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1555560204 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1567702823 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1567705064 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1567706411 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1597986791 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1597988331 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS1801176 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS202190197 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2056023141 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2056023296 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2056043532 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2056069710 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |
| RS2056081389 | Health Risk | Pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA |