Cloned (Comment) | Organism |
---|---|
gene EXT1, real-time quantitative PCR enzyme expression analysis | Mus musculus |
Protein Variants | Comment | Organism |
---|---|---|
additional information | generation of EXT1 knockout mice | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | P97464 | gene EXT1 | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
embryo | - |
Mus musculus | - |
heart | - |
Mus musculus | - |
mesoderm | - |
Mus musculus | - |
neural crest cell | - |
Mus musculus | - |
pharynx | - |
Mus musculus | - |
Synonyms | Comment | Organism |
---|---|---|
exostosin-1 | - |
Mus musculus |
EXT1 | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | deletion of Ext1 in the mesoderm induces a cardiac phenotype similar to that of a mutant with conditional deletion of UDP-glucose dehydrogenase, a key enzyme responsible for synthesis of all glycosaminoglycans. The outflow tract defect in conditional Ext1 knockout (Ext1f/f:Mesp1Cre) mice is attributable to the reduced contribution of second heart field and neural crest cells. Ext1 deletion leads to downregulation of FGF signaling in the pharyngeal mesoderm. Exogenous FGF8 ameliorates the defects in the outflow tract and pharyngeal explants. Phenotype, detailed overview | Mus musculus |
metabolism | Exostosin glycosyltransferases exclusively catalyze heparan sulfate polymerization. Heparan sulfate/heparin, chondroitin sulfate, dermatan sulfate, and keratan sulfate form glycosaminoglycans, long linear polysaccharide chains consisting of repeat disaccharide units. Glycosaminoglycans are the major components of the extracellular matrix and play critical roles in regulating transport and signaling of numerous growth factors during embryonic development | Mus musculus |
physiological function | Ext1 is a glycosyltransferase responsible for heparan sulfate synthesis. Function of Ext1 in heart development, overview. Ext1 expression in second heart field and neural crest cells is required for outflow tract remodeling. Ext1 is crucial for outflow tract formation in distinct progenitor cells, and heparan sulfate modulates FGF signaling during early heart development. Proper expression of Ext1 is required for cardiogenesis, heparan sulfate is required for heart development | Mus musculus |