EC Number   |
Disease  |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.4.1.223 | Adenocarcinoma |
11382776 |
A novel endo-beta-galactosidase from Clostridium perfringens that liberates the disaccharide GlcNAcalpha 1-->Gal from glycans specifically expressed in the gastric gland mucous cell-type mucin. |
ongoing research
unassigned |
1
0 |
| 2.4.1.223 | Carcinogenesis |
32347583 |
Aberrant glycosaminoglycan biosynthesis by tumor suppressor EXTL2 deficiency promotes liver inflammation and tumorigenesis through Toll-like 4 receptor signaling. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.4.1.223 | Demyelinating Diseases |
32703234 |
The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination. |
unassigned |
0 |
| 2.4.1.223 | Exostoses, Multiple Hereditary |
11121397 |
rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate. |
causal interaction
unassigned |
1
0 |
| 2.4.1.223 | Exostoses, Multiple Hereditary |
17237233 |
Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis. |
causal interaction
ongoing research
unassigned |
1
1
0 |
| 2.4.1.223 | glucuronosyl-galactosyl-proteoglycan 4-alpha-n-acetylglucosaminyltransferase deficiency |
32347583 |
Aberrant glycosaminoglycan biosynthesis by tumor suppressor EXTL2 deficiency promotes liver inflammation and tumorigenesis through Toll-like 4 receptor signaling. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.4.1.223 | Kashin-Beck Disease |
32517548 |
Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease. |
causal interaction
diagnostic usage
unassigned |
2
1
0 |
| 2.4.1.223 | Mucopolysaccharidoses |
19690583 |
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. |
therapeutic application
unassigned |
4
0 |
| 2.4.1.223 | Mucopolysaccharidosis III |
19690583 |
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. |
therapeutic application
unassigned |
4
0 |
| 2.4.1.223 | Neoplasms |
10318803 |
The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate. |
causal interaction
unassigned |
1
0 |
