Description
Product Characteristics:
GLYCTK is a 523 amino acid protein that is expressed as seven isoforms which are present throughout the body. Localized to the cytoplasm and the mitochondrion in an isoform-specific manner, GLYCTK functions to catalyze the ATP-dependent conversion of (R)-glycerate to 3-(R)-glycerate, thereby playing an important role in neural and skeletal muscle systems. Defects in the gene encoding GLYCTK are the cause of D-glyceric acidemia, an inborn error of amino acid metabolism that is best described as nonketotic hyperglycinemia and is characterized by the excretion of D-glyceric acid in the urine.
Subcellular location: Cytoplasm
Synonyms: CG9886 like, GLCTK_HUMAN, Glycerate kinase, Glyctk, GLYCTK1, HBeAg binding protein 2, HBeAg binding protein 4, HBeAg-binding protein 4, HBeAgBP4A, HBEBP2, HBEBP4.
Target Information: This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]