GLYCTK Antibody – Rabbit Polyclonal

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]

GLYCTK: Defects in GLYCTK are the cause of D-glyceric aciduria (D-GA). D-GA is a rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development. Belongs to the glycerate kinase type-2 family. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - glycerolipid; Kinase, other; Carbohydrate Metabolism - glyoxylate and dicarboxylate; Amino Acid Metabolism - glycine, serine and threonine; EC 2.7.1.31

Chromosomal Location of Human Ortholog: 3p21.1

Cellular Component: cytoplasm; cytosol; mitochondrion

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

Biological Process: protein amino acid phosphorylation

Disease: D-glyceric Aciduria