DCXR

dicarbonyl and L-xylulose reductase

Summary

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]

Known Variants25 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2510198486	17:79,993,847	A/C	—	uncertain significance
rs768716624	17:79,993,865	G/C	—	uncertain significance
rs766875180	17:79,993,883	T/A	—	uncertain significance
rs61746217	17:79,993,919	C/A	missense variant	—
rs144807548	17:79,993,937	C/T	—	likely benign
rs1376193839	17:79,994,114	T/C	—	uncertain significance
rs199558783	17:79,994,295	T/C	—	uncertain significance
rs775400332	17:79,994,310	C/A	—	uncertain significance
rs201745238	17:79,994,508	C/G	—	uncertain significance
rs1598461455	17:79,994,510	T/C	—	uncertain significance
rs9780	17:79,994,600	C/T	—	benign
rs985887100	17:79,994,624	G/T	—	uncertain significance
rs2510199424	17:79,994,630	C/G	—	likely benign
rs772531200	17:79,994,780	G/A	—	uncertain significance
rs113680823	17:79,995,320	A/G	—	benign
rs376086551	17:79,995,331	G/A	—	uncertain significance
rs748809586	17:79,995,358	T/G	—	uncertain significance
rs773008120	17:79,995,362	G/C	—	uncertain significance
rs753772586	17:79,995,387	G/A	—	uncertain significance
rs12946979	17:79,995,431	G/A	—	benign
rs375243154	17:79,995,506	C/T	—	uncertain significance
rs759164616	17:79,995,533	C/A	—	uncertain significance
rs191302793	17:79,995,538	G/A	—	benign
rs955427289	17:79,995,542	G/A	—	uncertain significance
rs762303638	17:79,995,549	A/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.