Background information
GK2 is a 553 amino acid protein that belongs to the FGGY kinase family and is involved in the pathway of glycerol degradation. Localized to the outer membrane of the mitochondrion and expressed at high levels in testis, GK2 functions to catalyze the ATP-dependent conversion of glycerol to glycerol 3-phosphate. Via its catalytic activity, GK2 plays an essential role in the regulation of glycerol uptake and metabolism. The gene encoding GK2 maps to chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
