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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DHRSX
dehydrogenase/reductase X-linked
Chromosome X|Y Β· Xp22.33 and Yp11.2
NCBI Gene: 207063Ensembl: ENSG00000169084.15HGNC: HGNC:18399UniProt: Q8N5I4
19PubMed Papers
17Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingalcohol dehydrogenase (NADP+) activitypolyprenol dehydrogenase (NAD+) activitydolichal reductase (NADPH) activitycongenital disorder of glycosylation, type 1DDneurodegenerative diseasehepatocellular carcinomaAbnormality of prenatal development or birth
✦AI Summary

DHRSX is an oxidoreductase enzyme located on the pseudoautosomal regions of the X and Y chrX|Y that plays a critical role in dolichol biosynthesis, an essential step in N-linked protein glycosylation 1. DHRSX catalyzes two non-consecutive reactions in the three-step conversion of polyprenol to dolichol: first, it performs NAD+-dependent dehydrogenation of polyprenol into polyprenal, and subsequently catalyzes NADPH-dependent reduction of dolichal into dolichol, with SRD5A3 catalyzing the intermediate step 1. This dual substrate and cofactor specificity is unique among dolichol biosynthetic enzymes 1. Deficiency of DHRSX causes congenital disorder of glycosylation type 1DD (DHRSX-CDG), presenting as pseudoautosomal-recessive disease with missense variants disrupting enzyme function 1. Loss of DHRSX function results in accumulation of polyprenol derivatives and depletion of dolichol, severely impairing N-glycosylation capacity 23. Beyond its established role in glycosylation, DHRSX may act as a positive regulator of starvation-induced autophagy, functioning as a non-classical secretory protein 4. DHRSX has also been identified as a candidate gene in nonobstructive azoospermia 5, suggesting additional reproductive functions.

Sources cited
1
DHRSX catalyzes first and third steps of dolichol biosynthesis using dual NAD+/NADPH cofactors; causes congenital disorder of glycosylation (DHRSX-CDG) when mutated
PMID: 38821050
2
DHRSX deficiency in CHO cells causes N-glycosylation defects through impaired dolichol synthesis and accumulation of polyprenol
PMID: 39395802
3
DHRSX gene deletion in CHO cells causes N-glycosylation defects; human DHRSX complements the defect confirming functional conservation
PMID: 38948797
4
DHRSX is a non-classical secretory protein that promotes starvation-induced autophagy
PMID: 25076851
5
DHRSX identified as candidate gene associated with nonobstructive azoospermia
PMID: 36017582
6
DHRSX defects cause congenital disorders of glycosylation affecting dolichol synthesis and utilization
PMID: 40902550
Disease Associationsβ“˜17
congenital disorder of glycosylation, type 1DDOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.17Weak
Abnormality of prenatal development or birthOpen Targets
0.03Suggestive
precursor B-cell acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
Timothy syndromeOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
muscular dystrophyOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
infertilityOpen Targets
0.00Suggestive
AutoimmunityOpen Targets
0.00Suggestive
congenital disorder of glycosylationOpen Targets
0.00Suggestive
human granulocytic anaplasmosisOpen Targets
0.00Suggestive
Congenital disorder of glycosylation 1DDUniProt
Pathogenic Variants1
NM_145177.3(DHRSX):c.541G>T (p.Val181Phe)Pathogenic
Congenital disorder of glycosylation, type 1DD
β˜†β˜†β˜†β˜†2024β†’ Residue 181
View on ClinVar β†—
Related Genes
ZBED1Protein interaction88%ASMTLProtein interaction77%PLCXD1Protein interaction72%DOLKShared pathway50%DHDDSShared pathway50%DOLPP1Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Heart
78%
Lung
44%
Ovary
43%
Brain
26%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
DHRSXZBED1ASMTLPLCXD1DOLKDHDDSDOLPP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N5I4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.23LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.69–1.23]
RankingsWhere DHRSX stands among ~20K protein-coding genes
  • #14,406of 20,598
    Most Researched19
  • #5,387of 5,498
    Most Pathogenic Variants1
  • #12,968of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedDHRSX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
PMID: 38821050
Cell Β· 2024
1.00
2
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells.
PMID: 39395802
J Biol Chem Β· 2024
0.90
3
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
PMID: 36017582
Andrology Β· 2022
0.80
4
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene.
PMID: 38948797
bioRxiv Β· 2024
0.70
5
X chromosome dosage and the genetic impact across human tissues.
PMID: 36978128
Genome Med Β· 2023
0.60