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This locus encodes a member of the glycerate kinase type-2 family.
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Mutations in the GLYCTK gene is the cause of D-glycerate kinase deficiency and D-glyceric aciduria.
Identification of two variants of the human glycerate kinase gene-Glycerate kinase 1 (GLYCTK1), longer variant, and Glycerate kinase 2 (GLYCTK2), shorter variant.
Data show significant evidence of linkages were obtained with NMR signals characterizing the glycerate (LOD10-42) at the mutant glycerate kinase locus, which demonstrate the power of metabolomics to identify the biological function of genetic variants.
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.
HBeAg binding protein 4
, HBeAg-binding protein 2
, glycerate kinase