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DCXR

Synonyms
DCR, HCR2, HCRII, KIDCR, P34H, PNTSU, SDR20C1, XR
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,261
Likely benign
1,782
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on DCXR gene.

Phenotype class
Patients in 3billion (%)

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