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 Maximum [Da] | Comment | Organism |
---|---|---|---|
86300 | - |
EXT1 | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
kidney | EXT1 | Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
exostosin-1 | - |
Homo sapiens |
EXT1 | - |
Homo sapiens |
EXT2 | - |
Homo sapiens |
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 |