DCXR dicarbonyl and L-xylulose reductase
Gene ID: 51181, updated on 11-Apr-2024Gene type: protein coding
Also known as: XR; DCR; HCR2; P34H; HCRII; KIDCR; PNTSU; SDR20C1
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- Go to complete Gene record for DCXR
- Go to Variation Viewer for DCXR variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Essential pentosuria | See labs |
Genomic context
- Location:
- 17q25.3
- Sequence:
- Chromosome: 17; NC_000017.11 (82035858..82037697, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DCXR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DCXR database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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