Protein Variants | Comment | Organism |
---|---|---|
C333R | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
L462W | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
L46F | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
additional information | generation of Ext1+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext1+/- mice compared to wild-type littermates | Mus musculus |
additional information | generation of Ext2+/- mice, endothelial glycocalyx and maximal arteriolar dilatation are significantly altered in Ext2+/- mice compared to wild-type littermates | Mus musculus |
additional information | in vitro EXT1 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow | Homo sapiens |
additional information | in vitro EXT2 silencing, suppressed with siRNA, in microvascular endothelial cells under laminar flow | Homo sapiens |
N288K | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
R227D | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
R340H | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
S344F | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
S478L | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
V68G | naturally occuring mutation in hereditary multiple exostoses syndrome | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q16394 | gene EXT1 | - |
Homo sapiens | Q93063 | gene ext2 | - |
Mus musculus | P70428 | gene ext2 | - |
Mus musculus | P97464 | gene EXT1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
arteriole | - |
Homo sapiens | - |
arteriole | - |
Mus musculus | - |
artery | - |
Homo sapiens | - |
artery | - |
Mus musculus | - |
endothelium | - |
Homo sapiens | - |
endothelium | - |
Mus musculus | - |
Synonyms | Comment | Organism |
---|---|---|
exostosin-1 | - |
Homo sapiens |
exostosin-1 | - |
Mus musculus |
exostosin-2 | - |
Homo sapiens |
exostosin-2 | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2 on endothelial function in vitro as well as in vivo, phenotype, overview | Mus musculus |
malfunction | effect of heterozygous mutations in heparan sulfate elongation genes EXT1 and EXT2 on endothelial function in vitro as well as in vivo. Silencing of microvascular endothelial cell EXT1 and EXT2 under flow led to significant upregulation of endothelial nitric oxide synthesis and phospho-endothelial nitric oxide synthesis protein expression. Brachial artery flow-mediated dilation is significantly increased in hereditary multiple exostoses (HME) patients. In humans, heterozygous loss of function mutation in EXT1 and EXT2 are known to be involved in the development of HME syndrome, a disorder associated with bony tumor formation. In these humans, the loss-of-function mutations lead to alterations in the structure of tissue and plasma heparan sulfate composition, phenotype, overview | Homo sapiens |
physiological function | heparan sulfate elongation genes EXT1 and EXT2 are involved in heparan sulfate elongation and in maintaining endothelial homeostasis, presumably via increased nitric oxide bioavailability | Homo sapiens |
physiological function | heparan sulfate elongation genes EXT1 and EXT2 are involved in heparan sulfate elongation and in maintaining endothelial homeostasis, presumably via increased nitric oxide bioavailability | Mus musculus |