Meta-Biol

• Pathways

Cytosolic sedoheptulokinase (SHPK aka CARKL) catalyses an orphan reaction in the pentose phosphate pathway and is a novel regulator of glycolytic energy flux which is critical for macrophage activation (Haschemi et al. 2012). The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes the adjacent gene SHPK. In nephropathic cystinosis patients, defects in SHPK can cause urinary accumulation of sedoheptulose and erythritol (Wamelink et al. 2008, Kardon et al. 2008).