产品名称
RFT1 Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/91869
Human Swissprot No.
Q96AA3
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q96AA3/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/328370
Mouse Swissprot No.
Q8C3B8
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8C3B8
免疫原
Synthesized peptide derived from human RFT1 AA range: 451-501
特异性
This antibody detects endogenous levels of RFT1 at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Membrane ; Multi-pass membrane protein .
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
