GFUS

Summary

GFUS (GDP-L-fucose synthase, HGNC:12390) is a protein-coding gene on chromosome 8q24.3, encoding GDP-L-fucose synthase (Q13630). Catalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.

Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II.

Source: NCBI Gene 7264 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital disorder of glycosylation (Limited, ClinGen)
• GWAS associations: 2
• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_003313

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12390
Approved symbol	GFUS
Name	GDP-L-fucose synthase
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	FX, P35B, SDR4E1
Ensembl gene	ENSG00000104522
Ensembl biotype	protein_coding
OMIM	137020
Entrez	7264

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 20 protein_coding, 8 retained_intron, 1 nonsense_mediated_decay

ENST00000425753, ENST00000524719, ENST00000525274, ENST00000526290, ENST00000527006, ENST00000527549, ENST00000527677, ENST00000528920, ENST00000529048, ENST00000529064, ENST00000529899, ENST00000530474, ENST00000531006, ENST00000531473, ENST00000532308, ENST00000533817, ENST00000883221, ENST00000883222, ENST00000883223, ENST00000883224, ENST00000917985, ENST00000917986, ENST00000917987, ENST00000917988, ENST00000917989, ENST00000917990, ENST00000917991, ENST00000956274, ENST00000956275

RefSeq mRNA: 9 — MANE Select: NM_003313 NM_001317783, NM_001413407, NM_001413408, NM_001413409, NM_001413410, NM_001413411, NM_001413412, NM_001413413, NM_003313

CCDS: CCDS6408

Canonical transcript exons

ENST00000425753 — 11 exons

Exon	Start	End
ENSE00000876562	143614320	143614453
ENSE00002165840	143617474	143617549
ENSE00003465757	143612618	143612965
ENSE00003552373	143614787	143614915
ENSE00003603815	143613196	143613295
ENSE00003606257	143616567	143616723
ENSE00003630288	143614624	143614697
ENSE00003668335	143613524	143613603
ENSE00003670624	143614164	143614228
ENSE00003685930	143613751	143613817
ENSE00003691195	143616106	143616220

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 97.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.5444 / max 280.8421, expressed in 1818 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95513	26.0174	1817
95512	2.3512	1094
95508	0.0639	13
95514	0.0584	24
95507	0.0348	7
95511	0.0102	4
95510	0.0052	2
95509	0.0032	2

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
body of stomach	UBERON:0001161	97.40	gold quality
skin of abdomen	UBERON:0001416	97.31	gold quality
esophagus mucosa	UBERON:0002469	97.20	gold quality
zone of skin	UBERON:0000014	97.06	gold quality
duodenum	UBERON:0002114	97.00	gold quality
skin of leg	UBERON:0001511	96.91	gold quality
saliva-secreting gland	UBERON:0001044	96.84	gold quality
minor salivary gland	UBERON:0001830	96.80	gold quality
body of pancreas	UBERON:0001150	96.67	gold quality
mucosa of transverse colon	UBERON:0004991	96.65	gold quality
lower esophagus mucosa	UBERON:0035834	96.54	gold quality
fundus of stomach	UBERON:0001160	96.36	gold quality
stomach	UBERON:0000945	96.17	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.86	gold quality
right lobe of liver	UBERON:0001114	95.83	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.76	gold quality
blood	UBERON:0000178	95.58	gold quality
left testis	UBERON:0004533	95.55	gold quality
pituitary gland	UBERON:0000007	95.54	gold quality
transverse colon	UBERON:0001157	95.54	gold quality
right testis	UBERON:0004534	95.49	gold quality
adenohypophysis	UBERON:0002196	95.29	gold quality
small intestine	UBERON:0002108	95.28	gold quality
prostate gland	UBERON:0002367	95.24	gold quality
esophagus	UBERON:0001043	95.23	gold quality
testis	UBERON:0000473	95.18	gold quality
granulocyte	CL:0000094	94.93	gold quality
rectum	UBERON:0001052	94.62	gold quality
right lobe of thyroid gland	UBERON:0001119	94.37	gold quality
gall bladder	UBERON:0002110	94.19	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	53.74
E-GEOD-125970	yes	19.45
E-ANND-3	yes	7.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting GFUS, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4751	98.80	64.95	525
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-10398-5P	97.12	64.94	1051
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-1343-5P	96.48	66.06	1506

Literature-anchored findings (GeneRIF, showing 7)

• Tissue-specific transplantation antigen P35B (TSTA3) immune response-mediated metabolism coupling cell cycle to postreplication repair network in no-tumor hepatitis/cirrhotic tissues (HBV or HCV (PMID:22528125)
• Data indicate that the structure of GDP-l-fucose synthase (FX) reveals the key catalytic residues. (PMID:23774504)
• The findings suggest that miR-125a-5p/miR-125b suppress the expression of TSTA3, which controls cell proliferation and invasion by regulating CXCR4 expression. In conclusion, a high expression of TSTA3 exerts a proto-oncogenic effect during carcinogenesis and serves as an independent molecular marker for breast cancerpatients. (PMID:26531722)
• tissue-specific transplantation antigen P35B may serve as a novel biomarker for prognosis of patients with esophageal squamous cell carcinoma. (PMID:29950151)
• TSTA3 facilitates esophageal squamous cell carcinoma progression through regulating fucosylation of LAMP2 and ERBB2. (PMID:33042286)
• [TSTA3 gene promotes esophageal cancer invasion through MAPK-ERK pathway and downstream MMP2/9]. (PMID:34979755)
• FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation. (PMID:36583336)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	gfus.1	ENSDARG00000039666
danio_rerio	gfus.2	ENSDARG00000039669
danio_rerio	gfus.3	ENSDARG00000042661
mus_musculus	Gfus	ENSMUSG00000022570
rattus_norvegicus	Gfus	ENSRNOG00000009020
drosophila_melanogaster	Gmer	FBGN0267823
caenorhabditis_elegans		WBGENE00019813

Paralogs (10): TGDS (ENSG00000088451), HSD3B7 (ENSG00000099377), GMDS (ENSG00000112699), UXS1 (ENSG00000115652), GALE (ENSG00000117308), NSDHL (ENSG00000147383), SDR42E2 (ENSG00000183921), SDR42E1 (ENSG00000184860), HSD3B1 (ENSG00000203857), HSD3B2 (ENSG00000203859)

Protein

Protein identifiers

GDP-L-fucose synthase — Q13630 (reviewed: Q13630)

Alternative names: GDP-4-keto-6-deoxy-D-mannose-3,5-epimerase-4-reductase, Protein FX, Red cell NADP(H)-binding protein, Short-chain dehydrogenase/reductase family 4E member 1

All UniProt accessions (8): Q13630, A0A140VKC8, E9PKL9, E9PLH9, E9PP14, E9PP60, H0YCP7, H0YE90

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.

Subunit / interactions. Homodimer.

Pathway. Nucleotide-sugar biosynthesis; GDP-L-fucose biosynthesis via de novo pathway; GDP-L-fucose from GDP-alpha-D-mannose: step 2/2.

Similarity. Belongs to the NAD(P)-dependent epimerase/dehydratase family. Fucose synthase subfamily.

RefSeq proteins (9): NP_001304712, NP_001400336, NP_001400337, NP_001400338, NP_001400339, NP_001400340, NP_001400341, NP_001400342, NP_003304* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001509	Epimerase_deHydtase	Domain
IPR028614	GDP_fucose/colitose_synth	Family
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF01370

Catalyzed reactions (Rhea), 1 shown:

• GDP-beta-L-fucose + NADP(+) = GDP-4-dehydro-alpha-D-rhamnose + NADPH + H(+) (RHEA:18885)

UniProt features (47 total): strand 16, helix 12, binding site 8, turn 5, site 3, chain 1, active site 1, sequence conflict 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
4E5Y	X-RAY DIFFRACTION	2.37
4BL5	X-RAY DIFFRACTION	2.6
4BKP	X-RAY DIFFRACTION	2.7
4B8W	X-RAY DIFFRACTION	2.75
4B8Z	X-RAY DIFFRACTION	2.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13630-F1	95.96	0.91

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (4): 143 (proton donor/acceptor); 114 (important for catalytic activity); 116 (important for catalytic activity); 147 (lowers pka of active site tyr)

Ligand- & substrate-binding residues (8): 14–20; 147; 170–173; 186; 194; 208; 215; 277

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6787639	GDP-fucose biosynthesis

MSigDB gene sets: 199 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_MIGRATION, TERAMOTO_OPN_TARGETS_CLUSTER_6, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION, ONKEN_UVEAL_MELANOMA_UP

GO Biological Process (7): T cell mediated cytotoxicity (GO:0001913), leukocyte cell-cell adhesion (GO:0007159), positive regulation of endothelial cell migration (GO:0010595), GDP-mannose metabolic process (GO:0019673), ‘de novo’ GDP-L-fucose biosynthetic process (GO:0042351), positive regulation of endothelial cell-matrix adhesion (GO:1904906), nucleotide-sugar biosynthetic process (GO:0009226)

GO Molecular Function (9): electron transfer activity (GO:0009055), GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356), identical protein binding (GO:0042802), GDP-mannose 3,5-epimerase activity (GO:0047918), GDP-L-fucose synthase activity (GO:0050577), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), isomerase activity (GO:0016853)

GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleotide-sugar metabolic process	2
GDP-L-fucose biosynthetic process	2
molecular_function	2
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	2
catalytic activity	2
leukocyte mediated cytotoxicity	1
T cell mediated immunity	1
cell-cell adhesion	1
regulation of endothelial cell migration	1
positive regulation of cell migration	1
endothelial cell migration	1
GDP-mannose metabolic process	1
positive regulation of cell-matrix adhesion	1
endothelial cell-matrix adhesion	1
regulation of endothelial cell-matrix adhesion	1
carbohydrate derivative biosynthetic process	1
nucleoside phosphate biosynthetic process	1
protein binding	1
racemase and epimerase activity, acting on carbohydrates and derivatives	1
binding	1
cytoplasm	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

3119 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GFUS	GMDS	O60547	771
GFUS	FCSK	Q8N0W3	745
GFUS	FPGT	O14772	672
GFUS	FUT8	Q9BYC5	613
GFUS	SLC35C1	Q96A29	604
GFUS	GALE	Q14376	564
GFUS	GNPNAT1	Q96EK6	491
GFUS	MPI	P34949	478
GFUS	RPEL1	Q2QD12	478
GFUS	POFUT1	Q9H488	477
GFUS	VSIG2	Q96IQ7	437
GFUS	A0A140T9Z0	A0A140T9Z0	436
GFUS	UGDH	O60701	428
GFUS	POFUT2	Q9Y2G5	427
GFUS	CD4	P01730	416

IntAct

24 interactions, top by confidence:

A	B	Type	Score
GFUS	GFUS	psi-mi:“MI:0915”(physical association)	0.680
GFUS	GFUS	psi-mi:“MI:0407”(direct interaction)	0.680
GFUS	CLVS2	psi-mi:“MI:0915”(physical association)	0.560
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
GFUS	PCBP3	psi-mi:“MI:0915”(physical association)	0.400
GFUS	KLHL15	psi-mi:“MI:0915”(physical association)	0.400
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
GFUS	ID2	psi-mi:“MI:0915”(physical association)	0.370
RIOK2	GFUS	psi-mi:“MI:0915”(physical association)	0.370
KEAP1	ASNS	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
GOT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
GFUS	GFUS	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (56): PCBP3 (Affinity Capture-MS), ARFIP1 (Co-fractionation), G6PD (Co-fractionation), GALE (Co-fractionation), HNRNPH1 (Co-fractionation), KDM3A (Co-fractionation), NTMT1 (Co-fractionation), RABIF (Co-fractionation), SEC31A (Co-fractionation), TSTA3 (Co-fractionation), TSTA3 (Co-fractionation), TSTA3 (Co-fractionation), TSTA3 (Co-fractionation), TSTA3 (Co-fractionation), TSTA3 (Co-fractionation)

ESM2 similar proteins: A0PJE2, A4FUZ6, A6QP05, D2WKD9, F1QWW8, O49213, O66148, O75884, O88736, O88851, P13653, P15904, P23591, P30043, P52556, P56658, P56937, Q06136, Q0IH28, Q0VCN1, Q0VFE7, Q13630, Q2KIJ5, Q3T0R4, Q41578, Q42850, Q566S6, Q59987, Q5R6U1, Q5RBE5, Q5RJY4, Q5ZID0, Q62904, Q66KC4, Q67WR2, Q6GV12, Q6IAN0, Q6P5L8, Q6PAY8, Q7XKF3

Diamond homologs: G5EER4, O49213, P23591, P32055, P55353, Q13630, Q55C77, Q5RBE5, Q8K3X2, Q9LMU0, Q9W1X8, G4WJD3, P33217, Q67WR2, Q67WR5, A6QLW2, Q8VDR7, Q9L9E8, Q8H0B6, Q8S8T4, Q9LZI2, Q9JRN7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

103 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	3
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

1780 predictions. Top by Δscore:

Variant	Effect	Δscore
8:143613531:T:TA	donor_gain	1.0000
8:143613532:C:A	donor_gain	1.0000
8:143613600:CCCA:C	acceptor_gain	1.0000
8:143613601:CCA:C	acceptor_gain	1.0000
8:143613601:CCAC:C	acceptor_gain	1.0000
8:143613602:CAC:C	acceptor_gain	1.0000
8:143613604:C:CC	acceptor_gain	1.0000
8:143613746:CCCA:C	donor_loss	1.0000
8:143613747:CCACC:C	donor_loss	1.0000
8:143613749:A:AC	donor_gain	1.0000
8:143613749:ACCGG:A	donor_loss	1.0000
8:143613750:C:CA	donor_loss	1.0000
8:143613750:C:CC	donor_gain	1.0000
8:143614152:T:TA	donor_gain	1.0000
8:143614315:CTCA:C	donor_gain	1.0000
8:143614318:A:AC	donor_gain	1.0000
8:143614319:C:CT	donor_gain	1.0000
8:143614319:CT:C	donor_gain	1.0000
8:143614452:CC:C	acceptor_gain	1.0000
8:143614453:CC:C	acceptor_gain	1.0000
8:143614582:C:CA	donor_gain	1.0000
8:143614781:CCTCA:C	donor_loss	1.0000
8:143614782:CTCA:C	donor_loss	1.0000
8:143614783:TCA:T	donor_loss	1.0000
8:143614784:CAC:C	donor_loss	1.0000
8:143614785:A:AG	donor_loss	1.0000
8:143614797:T:C	donor_gain	1.0000
8:143614911:TTCCT:T	acceptor_gain	1.0000
8:143614912:TCCT:T	acceptor_gain	1.0000
8:143614913:CCTC:C	acceptor_gain	1.0000

AlphaMissense

2130 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:143614402:G:C	N172K	0.998
8:143614402:G:T	N172K	0.998
8:143614647:C:A	K147N	0.998
8:143614647:C:G	K147N	0.998
8:143614668:A:C	N140K	0.998
8:143614668:A:T	N140K	0.998
8:143614182:C:A	R215S	0.997
8:143614182:C:G	R215S	0.997
8:143614183:C:A	R215M	0.997
8:143614183:C:G	R215T	0.997
8:143614657:G:C	S144W	0.997
8:143614661:A:G	Y143H	0.997
8:143614829:A:C	C116W	0.997
8:143614823:G:C	F118L	0.996
8:143614823:G:T	F118L	0.996
8:143614825:A:G	F118L	0.996
8:143614830:C:T	C116Y	0.996
8:143614362:G:C	H186D	0.995
8:143614394:C:T	G175E	0.995
8:143614644:C:A	R148S	0.995
8:143614644:C:G	R148S	0.995
8:143614836:G:A	S114F	0.995
8:143614836:G:T	S114Y	0.995
8:143614907:G:C	N90K	0.995
8:143614907:G:T	N90K	0.995
8:143613260:C:A	K282N	0.994
8:143613260:C:G	K282N	0.994
8:143614176:G:C	F217L	0.994
8:143614176:G:T	F217L	0.994
8:143614178:A:G	F217L	0.994

dbSNP variants (sampled 300 via entrez): RS1000195461 (8:143615782 C>G), RS1000358430 (8:143612194 A>C), RS1000987962 (8:143633220 T>C), RS1001210038 (8:143617278 G>A,T), RS1001310924 (8:143612992 T>C), RS1001565792 (8:143615420 G>A,C,T), RS1001571277 (8:143618106 T>G), RS1001602061 (8:143617064 C>G,T), RS1003955582 (8:143618192 C>T), RS1004148484 (8:143618157 C>A,T), RS1004323741 (8:143615411 C>A), RS1004661059 (8:143614602 T>A,G), RS1005375863 (8:143614962 C>T), RS1005388425 (8:143616972 C>A), RS1005783392 (8:143616758 A>G,T)

Disease associations

OMIM: gene MIM:137020 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
congenital disorder of glycosylation	Limited	AR

Mondo (1): congenital disorder of glycosylation (MONDO:0015286)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001966_2	Rhegmatogenous retinal detachment	3.000000e-06
GCST012020_18	Serum metabolite levels	1.000000e-55

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018981	Congenital Disorders of Glycosylation	C16.320.565.202.125; C18.452.648.202.125

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

51 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation, affects cotreatment, increases expression	5
sodium arsenite	decreases expression, increases abundance	2
cobaltous chloride	decreases expression	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, increases expression	2
Smoke	increases expression, decreases expression, increases abundance	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	increases expression	1
2,4,6-tribromophenol	decreases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
decabromobiphenyl ether	decreases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
fenpyroximate	increases expression	1
pyrimidifen	increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
MT19c compound	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1

Clinical trials (associated diseases)

9 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT07572825	PHASE1	NOT_YET_RECRUITING	Assessing the Safety and Tolerability of NMN in DHDDS-CDG
NCT02089789	Not specified	RECRUITING	Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
NCT02503267	Not specified	UNKNOWN	Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects
NCT02955264	Not specified	COMPLETED	Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
NCT03250728	Not specified	COMPLETED	Role of the Endothelium in Stroke-like Episode Among CDG Patients
NCT03560570	Not specified	COMPLETED	Study of Hemostasis in Patients With Congenital Disorder of Glycosylation
NCT04198987	Not specified	COMPLETED	Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
NCT04199000	Not specified	RECRUITING	Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04201067	Not specified	COMPLETED	Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism