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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

Reaction

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

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 Transferases
         2.4 Glycosyltransferases
             2.4.1 Hexosyltransferases
                2.4.1.224 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

Disease

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Disease on EC 2.4.1.224 - glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Carcinoma
Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis.
Diabetes Mellitus
Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs.
Diabetes Mellitus, Type 2
Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs.
Exostoses
Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.
Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes.
Exostoses, Multiple Hereditary
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma.
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation.
Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling.
Identification and functional characterization of the human EXT1 promoter region.
Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas.
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas.
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma.
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Giant Cell Tumors
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Infections
Enterovirus 71 uses cell surface heparan sulfate glycosaminoglycan as an attachment receptor.
Intellectual Disability
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Neoplasms
Case Report of the positive exostosin-1 without B-cell lymphoma-2 gene expression of giant cell tumor lesion in hereditary multiple exostosis.
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members.
Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells.
Increased EXT1 gene copy number correlates with increased mRNA level predicts short disease-free survival in hepatocellular carcinoma without vascular invasion.
Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management.
Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditis elegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo.
Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion.
Seizures
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.