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2.4.1.225: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

This is an abbreviated version!
For detailed information about N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, go to the full flat file.

Word Map on EC 2.4.1.225

Reaction

UDP-alpha-D-glucuronate
+
N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan
=
UDP
 +
beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan

Synonyms

diphosphoglucuronate:oligosaccharide uridine glucuronosyltransferase, exostosin, exostosin-1, exostosin-2, Exostosin1, Exostosin2, exotose-2, EXT-1, EXT-2, EXT-3, EXT1, EXT2, EXTL3, extosin, gene EXTL1 glycosyltransferase, gene EXTL2 glycosyltransferase, glucuronic acid/N-acetylglucosamine co-polymerase-1, glucuronosyltransferase, heparan glucuronosyltransferase II, heparan sulfate co-polymerase, heparan sulfate glucuronosyltransferase, heparan sulfate synthesis enzyme, N-acetylglucosaminylproteoglycan beta-1,4-glucuronosyltransferase, RIB-1, RIB-2, sister of tout velu, sister of tout-velu, sotv, tout velu, tout-velu, ttv, UDP-glucuronate:oligosaccharide

ECTree

     2 Transferases
         2.4 Glycosyltransferases
             2.4.1 Hexosyltransferases
                2.4.1.225 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

Engineering

Engineering on EC 2.4.1.225 - N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
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
medicine
the mutation status of patients with multiple osteochondromas correlates with decreased EXT1 or EXT2 expression, loss of EXT expression disrupts the function of the EXT1/2 complex in heparan sulfate proteoglycan biosynthesis, resulting in the intracellular accumulation of heparan sulfate proteoglycan core proteins in tumo tissues
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
Y419X
-
the EXT2 mutation results in a truncated protein
additional information