功能： disease:Defects in RFT1 are the cause of congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]. CDGs are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. CDGs 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. Type 1 CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin.,function:May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.,similarity:Belongs to the RFT1 family.,
功能： disease:Defects in RFT1 are the cause of congenital disorder of glycosylation type 1N (CDG1N) [MIM:612015]. CDGs are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. CDGs 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. Type 1 CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin.,function:May be involved in N-linked oligosaccharide assembly. May participate in the translocation of oligosaccharide from the cytoplasmic side to the lumenal side of the endoplasmic reticulum membrane.,similarity:Belongs to the RFT1 family.,
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