DCXR
Function
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.
Involvement in disease
Pentosuria
PNTSU
An inborn error of metabolism characterized by excessive urinary excretion of L-xylulose.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Tissue Specificity
Highly expressed in kidney, liver and epididymis. In the epididymis, it is mainly expressed in the proximal and distal sections of the corpus region. Weakly or not expressed in brain, lung, heart, spleen and testis.
Cellular localization
- Membrane
- Peripheral membrane protein
- Probably recruited to membranes via an interaction with phosphatidylinositol.
Alternative names
SDR20C1, DCXR, L-xylulose reductase, XR, Carbonyl reductase II, Dicarbonyl/L-xylulose reductase, Kidney dicarbonyl reductase, Short chain dehydrogenase/reductase family 20C member 1, Sperm surface protein P34H, kiDCR