G6PC3

Description

The G6PC3 gene encodes for the glucose-6-phosphatase, catalytic subunit 3 protein, a crucial enzyme involved in glucose metabolism. It plays a critical role in the regulation of blood glucose levels by facilitating the release of glucose from the liver. This gene is located on chromosome 17 and consists of 10 exons. G6PC3 mutations can lead to various metabolic disorders, affecting individuals‘ health and well-being.

Associated Diseases

• Glycogen Storage Disease Type Ia (GSD Ia)
• Glucose-6-Phosphatase Deficiency
• Hepatic Glucose Production Deficiency
• Hypoglycemia
• Growth Retardation
• Fatty Liver Disease
• Hyperlipidemia

Did you know?

The G6PC3 gene is highly expressed in the liver, but its expression can also be found in other tissues, such as the kidneys and intestines.