功能： catalytic activity:CTP + dolichol = CDP + dolichyl phosphate.,disease:Defects in DOLK are the cause of congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]; also known as dolichol kinase deficiency. CDGs are a family of severe inherited diseases caused by a defect in glycoprotein biosynthesis. They are characterized by under-glycosylated serum glycoproteins. 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. CDG1M is a very severe disorder with death occurring in early infancy.,function:Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.,miscellaneous:Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.,similarity:Belongs to the polyprenol kinase family.,tissue specificity:Ubiquitous.,
相關產(chǎn)品： RS0001,RS0002,YM3028,YM3029
細胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein .
功能： catalytic activity:CTP + dolichol = CDP + dolichyl phosphate.,disease:Defects in DOLK are the cause of congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]; also known as dolichol kinase deficiency. CDGs are a family of severe inherited diseases caused by a defect in glycoprotein biosynthesis. They are characterized by under-glycosylated serum glycoproteins. 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. CDG1M is a very severe disorder with death occurring in early infancy.,function:Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.,miscellaneous:Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.,similarity:Belongs to the polyprenol kinase family.,tissue specificity:Ubiquitous.,
相關產(chǎn)品： RS0001,RS0002,YM3028,YM3029
細胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein .
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