2.4.1.224: glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
This is an abbreviated version!
For detailed information about glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, go to the full flat file.
Word Map on EC 2.4.1.224
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2.4.1.224
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proteoglycans
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exostoses
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osteochondroma
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glycosaminoglycans
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glycosyltransferase
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hedgehog
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hspgs
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chondrosarcoma
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cartilaginous
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syndecan-1
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glypicans
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cartilage-capped
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wingless
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perlecan
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metaphyses
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decapentaplegic
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co-polymerase
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medicine
- 2.4.1.224
- proteoglycans
- exostoses
- osteochondroma
- glycosaminoglycans
- glycosyltransferase
-
hedgehog
-
hspgs
-
chondrosarcoma
-
cartilaginous
- syndecan-1
-
glypicans
-
cartilage-capped
-
wingless
- perlecan
-
metaphyses
-
decapentaplegic
-
co-polymerase
- medicine
Reaction
Synonyms
alpha-N-acetylglucosaminyltransferase II, exostosin-1, exostosin-2, Exostosin1, Exostosin2, EXT1, EXT2, extosin, glucuronyl-N-acetylglucosaminoproteoglycan 4-alpha-N-acetylglucosaminyltransferase, heparan sulfate polymerase, heparan sulfate synthesis enzyme, KfiA, More, N-acetyl-D-glucosaminyl-(N-acetyl-D-glucosamine) transferase, sister of tout velu, sister of tout-velu, sotv, tout-velu, ttv, UDP-GlcNAc:oligosaccharide beta-N-acetylglucosaminyltransferase
ECTree
2.4.1.224 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferaseAdvanced search results
results (
results (Engineering
Engineering on EC 2.4.1.224 - glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
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PROTEIN VARIANTS 
ORGANISM
UNIPROT
COMMENTARY 
LITERATURE
C333R
naturally occuring mutation in hereditary multiple exostoses syndrome
L462W
naturally occuring mutation in hereditary multiple exostoses syndrome
L46F
naturally occuring mutation in hereditary multiple exostoses syndrome
M87R
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome
N288K
naturally occuring mutation in hereditary multiple exostoses syndrome
R227D
naturally occuring mutation in hereditary multiple exostoses syndrome
R340H
naturally occuring mutation in hereditary multiple exostoses syndrome
R95C
naturally occuring mutation from a patient with clinical seizures-scoliosis-macrocephaly syndrome
S344F
naturally occuring mutation in hereditary multiple exostoses syndrome
S478L
naturally occuring mutation in hereditary multiple exostoses syndrome
V68G
naturally occuring mutation in hereditary multiple exostoses syndrome
additional information
additional information
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d620EXT1myc deletion mutant without 620 C-terminal amino acids, no enzymatic activity, ER localization
additional information
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enzyme null mutant, dramatically reduced levels of heparan sulfate, impaired Hedgehog, Wingless and Decapentaplegic signalling, alterations in chondroitin sulfate composition and levels
additional information
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enzyme null mutants, defects in Hedgehog and Decapentaplegic signalling, abnormal distribution of Wingless morphogen
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow
additional information
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d620EXT1myc deletion mutant without 620 C-terminal amino acids, no enzymatic activity, ER localization
additional information
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generation of conditional Ext1 mutant mice by crossing the Ext1flox allele and the Prx1-Cre transgene
additional information
generation of Ext1+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext1+/- mice compared to wild-type littermates
additional information
generation of Ext1+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext1+/- mice compared to wild-type littermates
additional information
generation of Ext2+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext2+/- mice compared to wild-type littermates
additional information
generation of Ext2+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext2+/- mice compared to wild-type littermates
additional information
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generation of conditional Ext1 mutant mice by crossing the Ext1flox allele and the Prx1-Cre transgene
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