Ontology highlight
ABSTRACT:
SUBMITTER: Chou JY
PROVIDER: S-EPMC2475600 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
Human mutation 20080701 7
Glucose-6-phosphatase-alpha (G6PC) is a key enzyme in glucose homeostasis that catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis. Mutations in the G6PC gene, located on chromosome 17q21, result in glycogen storage disease type Ia (GSD-Ia), an autosomal recessive metabolic disorder. GSD-Ia patients manifest a disturbed glucose homeostasis, characterized by fasting hypoglycemia, hepatomegaly, nephromegaly, hyperlipid ...[more]