DCXR Chromosome 17
Dicarbonyl and L-xylulose reductase
Upload your DNA to see your personal genotypes for variants in DCXR.
What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000169738
Associated Conditions (2)
Essential pentosuria
DCXR-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747887427 | Health Risk | Pathogenic; Affects | Essential pentosuria, DCXR-related disorder, Essential pentosuria |