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EXT2 encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Additionally we are shipping EXT2 Antibodies (2) and many more products for this protein.
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Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
The study indicates that formation of stereotypic exostoses requires a significant, but not complete, loss of Ext expression.
The EXT2 gene encodes an essential component of the glycosyltransferase complex required for biosynthesis of heparan sulfate, which may eventually modulate the signaling involved in bone formation
EXT2 peaks during early postnatal period in the cerebrum and around birth in the cerebellum. EXT2 was localized primarily in the neuroepithelial cells surrounding the lateral ventricles, the mesencephalic vesicle, and the fourth ventricle.
NDST1 competes with EXT1 for binding to EXT2.
EXT2 gene might not have a major role in the development of type 2 diabetes in the Chinese population.
EXT2 mutation is associated with multiple osteochondromatosis.
loss of function of EXT2 subjects with hereditary multiple exostoses affects pancreatic insulin (show INS ELISA Kits) secretion capacity and development.
Analysis of microsatellite polymorphic markers in the 11p region harboring the EXT2 gene did not reveal any loss of heterozygosity
The heterozygous mutation c.743+1G>A in the EXT2 gene causes HME as a result of abnormal splicing, mRNA decay, and the resulting haploinsufficiency of EXT2.
EXT1 and EXT2 heterozygous mutations in 18 (54.6 %) and ten (30.3 %) probands respectively, which represents a total of 28 (84.9 %) index cases.
The second exon of EXT2. A c.244delG mutation is associated with hereditary multiple exostosis.
This study demonstrated no association of rs1113132, rs3740878 and rs11037909 EXT2 variants with type 2 diabetes mellitus.
these findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of multiple osteochondromas in Chinese patients.
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
, multiple exostoses protein 2 homolog
, exostoses (multiple) 2
, glucuronyl/N-acetylglucosaminyl transferase
, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
, multiple exostoses protein 2
, putative tumor suppressor protein EXT2