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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
30
Likely pathogenic
0
VUS
878
Likely benign
3,224
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on DCXR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
37.9%
Abnormality of the ear
27.6%
Abnormality of the musculoskeletal system
27.6%
Abnormality of the nervous system
24.1%
Abnormality of head or neck
20.7%
Abnormality of the integument
20.7%
Abnormality of the cardiovascular system
17.2%
Neoplasm
13.8%
Abnormality of limbs
10.3%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
6.9%
Abnormality of the immune system
6.9%
Constitutional symptom
6.9%
Abnormal cellular phenotype
3.4%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the endocrine system
3.4%
Growth abnormality
3.4%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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