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Literature summary for 2.4.1.224 extracted from

  • Roberts, I.S.; Gleadle, J.M.
    Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation (2008), J. Am. Soc. Nephrol., 19, 450-453.
    View publication on PubMed
Search for more literature for 2.4.1.224

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum EXT1 is an endoplasmic reticulum-localized type II transmembrane glycoprotein Homo sapiens 5783
-
Golgi apparatus EXT1 and EXT2 form a hetero-oligomeric complex that accumulates in the Golgi apparatus Homo sapiens 5794
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
86300
-
 EXT1 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
kidney EXT1 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the EXT1 and EXT2 hetero-oligomeric complex has glycosyltransferase activity that is essential for the synthesis and expression of heparan sulfate glycosaminoglycans Homo sapiens ?
-
 ?

Synonyms

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

General Information

General Information Comment Organism
physiological function in patients with hereditary multiple exostoses, functional loss of EXT1 results in exostoses (osteochondromas), but inactivation of both copies of the gene (germline mutation plus loss of the remaining wild-type allele) is not required for development of the bone lesions. No reported association between EXT1 abnormalities and renal disease. Deficiency of heparan sulfate and perlecan, together with accumulation of collagens, in the matrix of EXT1-associated osteochondromas Homo sapiens