DCXR

Chr 17q25.3

dicarbonyl and L-xylulose reductase

Aliases:: KIDCR, DCR, SDR20C1, HCR2, P34H
MANE:: ENST00000306869.7

OMIM: 608347 ↗NCBI: 51181 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DCXR · Q7Z4W1

v62025-08-01

Predicted Aligned Error matrix for DCXR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.3/ 100

Very high

244 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)7%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

pentosuria
0.61
neurodegenerative disease
0.44
autoimmune disorder of central nervous system
0.43
Disorder of carbohydrate metabolism
0.37
Age-related cataract
0.09
senile cataract
0.09
breast cancer
0.08
metabolic syndrome
0.07
breast carcinoma
0.07
Abnormality of the skeletal system
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

L-xylulose reductase

Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose (PubMed:11882650, PubMed:19337691, PubMed:40737316). Can use both NAD and NADP as cosubstrate but shows higher activity with NADP (PubMed:11882650). Participates in the uronate cycle of glucose metabolism (PubMed:11882650). May play a role in the water absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby preventing osmolytic stress from occurring in the renal tubules (PubMed:11882650)