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.