GK Antibody – Rabbit Polyclonal

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]

GLPK: Key enzyme in the regulation of glycerol uptake and metabolism. Defects in GK are the cause of GK deficiency (GKD). This disease can be either symptomatic with episodic metabolic and CNS decompensation or asymptomatic with hyperglycerolemia and hyperglyceroluria only. Belongs to the FGGY kinase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.7.1.30; Mitochondrial; Lipid Metabolism - glycerolipid; Kinase, other

Chromosomal Location of Human Ortholog: Xp21.3

Cellular Component: mitochondrial outer membrane; cytosol; nucleus

Molecular Function: glycerol kinase activity; protein binding; ATP binding

Biological Process: triacylglycerol metabolic process; glycerol metabolic process; triacylglycerol biosynthetic process; cellular lipid metabolic process; glucose homeostasis; phosphorylation; glycerol-3-phosphate biosynthetic process; glycerol catabolic process

Disease: Glycerol Kinase Deficiency