GK1 Rabbit Polyclonal Antibody

The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD) . Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011], catalytic activity:ATP + glycerol = ADP + sn-glycerol 3-phosphate., caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data., disease:Defects in GK are the cause of GK deficiency (GKD) [MIM:307030]. This disease can be either symptomatic with episodic metabolic and CNS decompensation or asymptomatic with hyperglycerolemia and hyperglyceroluria only., function:Key enzyme in the regulation of glycerol uptake and metabolism., pathway:Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1., similarity:Belongs to the FGGY kinase family., subcellular location:In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm., tissue specificity:Highly expressed in the liver, kidney and testis. Isoforms 2 and 3 are expressed specifically in testis and fetal liver, but not in the adult liver.