功能： catalytic activity:UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.,disease:Defects in DPAGT1 are the cause of congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.,function:Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.,online information:GlycoGene database,online information:UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 4 family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane; Multi-pass membrane protein .
功能： catalytic activity:UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol.,disease:Defects in DPAGT1 are the cause of congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.,function:Catalyzes the initial step in the synthesis of dolichol-P-P-oligosaccharides.,online information:GlycoGene database,online information:UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase,pathway:Protein modification; protein glycosylation.,similarity:Belongs to the glycosyltransferase 4 family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane; Multi-pass membrane protein .
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