G6PC1
Function
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.
Involvement in disease
Glycogen storage disease 1A
GSD1A
A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate biosynthesis; gluconeogenesis.
Sequence Similarities
Belongs to the glucose-6-phosphatase family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
G6PC, G6PT, G6PC1, Glucose-6-phosphatase catalytic subunit 1, Glucose-6-phosphatase, Glucose-6-phosphatase alpha, G-6-Pase, G6Pase, G6Pase-alpha