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Literature summary for 2.4.1.224 extracted from

  • Mooij, H.L.; Cabrales, P.; Bernelot Moens, S.J.; Xu, D.; Udayappan, S.D.; Tsai, A.G.; van der Sande, M.A.; de Groot, E.; Intaglietta, M.; Kastelein, J.J.; Dallinga-Thie, G.M.; Esko, J.D.; Stroes, E.S.; Nieuwdorp, M.
    Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function (2014), J. Am. Heart Assoc., 3, e001274.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

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

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

Source Tissue Comment Organism Textmining
arteriole
-
 Homo sapiens
-
arteriole
-
 Mus musculus
-
artery
-
 Homo sapiens
-
artery
-
 Mus musculus
-
endothelium
-
 Homo sapiens
-
endothelium
-
 Mus musculus
-

Synonyms

Synonyms Comment Organism
exostosin-1
-
 Homo sapiens
exostosin-1
-
 Mus musculus
exostosin-2
-
 Homo sapiens
exostosin-2
-
 Mus musculus

General Information

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