DCXR Active Protein

The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

DCXR: Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L- xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules. The enzyme defect in pentosuria has been shown to involve L-xylulose reductase. Essential pentosuria is an inborn error of metabolism characterized by the excessive urinary excretion of the pentose L-xylulose. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Protein type: Carbohydrate Metabolism - pentose and glucuronate interconversions; EC 1.1.1.10; Oxidoreductase

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: cytoplasmic microtubule; nucleus; plasma membrane

Molecular Function: identical protein binding; L-xylulose reductase activity; oxidoreductase activity, acting on NADH or NADPH, quinone or similar compound as acceptor

Biological Process: glucose metabolic process; glucuronate catabolic process to xylulose 5-phosphate; protein homotetramerization; xylulose metabolic process

Disease: Pentosuria