DHRSX

Chr Xp22.33 and Yp11.2

dehydrogenase/reductase X-linked

Aliases:: DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1
MANE:: ENST00000334651.11

OMIM: 301034 ↗NCBI: 207063 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DHRSX · Q8N5I4

v62025-08-01

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

Mean pLDDT

94.9/ 100

Very high

330 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)14%
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)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital disorder of glycosylation, type 1DD
0.54
neurodegenerative disease
0.30
hepatocellular carcinoma
0.17
Abnormality of prenatal development or birth
0.03
leukemia
0.01
acute lymphoblastic leukemia
0.01
Timothy syndrome
0.01
precursor B-cell acute lymphoblastic leukemia
0.01
neoplasm
0.00
early-onset autosomal dominant Alzheimer disease
0.00

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

Protein function (UniProt)

Polyprenol dehydrogenase

Oxidoreductase that plays a key role in early steps of protein N-linked glycosylation by mediating two non-consecutive steps in dolichol biosynthesis (PubMed:38821050). Acts both as a NAD(+)-dependent dehydrogenase and as a NADPH-dependent reductase during the conversion of polyprenol into dolichol (PubMed:38821050). First catalyzes the NAD(+)-dependent dehydrogenation of polyprenol into polyprenal; polyprenal is then reduced into dolichal by SRD5A3 (PubMed:38821050). It then catalyzes the NADPH-dependent reduction of dolichal into dolichol (PubMed:38821050). May also acts as a positive regulator of starvation-induced autophagy (PubMed:25076851)