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Literature summary for 2.4.1.225 extracted from

  • Hameetman, L.; David, G.; Yavas, A.; White, S.J.; Taminiau, A.H.; Cleton-Jansen, A.; Hogendoom, P.C.; Bovee, J.V.
    Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas (2007), J. Pathol., 211, 399-409.
    View publication on PubMed
Search for more literature for 2.4.1.225

Protein Variants

Protein Variants Comment Organism
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 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
Golgi apparatus
-
 Homo sapiens 5794
-

Organism

Organism UniProt Comment Textmining
Homo sapiens Q16394
-
-
Homo sapiens Q93063
-
-

Source Tissue

Source Tissue Comment Organism Textmining
chondrosarcoma cell peripheral chondrosarcoma Homo sapiens
-
osteochondroma cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1-4)-beta-D-glucuronosyl-proteoglycan
-
 Homo sapiens UDP + beta-glucuronosyl-(1-4)-N-acetyl-alpha-D-glucosaminyl-(1-4)-beta-D-glucuronosyl-proteoglycan
-
 ?

Synonyms

Synonyms Comment Organism
exostosin-1
-
 Homo sapiens
exostosin-2
-
 Homo sapiens
EXT1
-
 Homo sapiens
EXT2
-
 Homo sapiens