RFT1 Antibody (C-Term) Blocking Peptide

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]

RFT1: 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. Defects in RFT1 are the cause of congenital disorder of glycosylation type 1N (CDG1N). 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. Belongs to the RFT1 family.

Protein type: Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 3p21.1

Cellular Component: endoplasmic reticulum membrane

Biological Process: glycolipid translocation

Disease: Congenital Disorder Of Glycosylation, Type In