Immunogen
Synthesized peptide derived from human RFT1 AA range: 451-501
Specificity
This antibody detects endogenous levels of RFT1 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1：500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008],
Function
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
Human protein sequence Database
Q96AA3
Mouse protein sequence database
Q8C3B8
Rat protein sequence database
Cellular localization
Membrane ; Multi-pass membrane protein .
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