What is g6p1041?

Answer 1

G6P1041 refers to a specific genetic variant or mutation in the G6PC gene, which encodes the enzyme glucose-6-phosphatase. This enzyme is crucial for glucose metabolism, particularly in the liver and kidneys, as it helps convert glucose-6-phosphate into glucose. Mutations in this gene can lead to metabolic disorders, most notably von Gierke disease, which is characterized by hypoglycemia and other metabolic complications. Understanding such variants can aid in diagnosing and developing treatments for related conditions.