基因名：
FHIT
产品别名：
AP3Aase； FRA3B； FHIT； fragile histidine triad diadenosine triphosphatase； fragile histidine triad diadenosine triphosphatase； bis(5'-adenosyl)-triphosphatase； AP3A hydrolase； adenosine 5'-monophosphoramidase FHIT； adenylylsulfatase； adenylylsulfate-ammonia adenylyltransferase； diadenosine 5',5'''-P1,P3-triphosphate hydrolase； dinucleosidetriphosphatase； 磷酸化脆性组氨酸三联体； 脆性组氨酸三联体；
背景信息：
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]
