DDOST Antibody – Rabbit Polyclonal

This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]

DDOST: Essential subunit of N-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Defects in DDOST are the cause of congenital disorder of glycosylation type 1R (CDG1R). A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. Belongs to the DDOST 48 kDa subunit family.

Protein type: Endoplasmic reticulum; EC 2.4.99.18; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral; Transferase

Chromosomal Location of Human Ortholog: 1p36.1

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; intracellular membrane-bound organelle; membrane; oligosaccharyl transferase complex; protein complex

Molecular Function: dolichyl-diphosphooligosaccharide-protein glycotransferase activity; oligosaccharyl transferase activity; protein binding

Biological Process: protein amino acid glycosylation; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine; response to cytokine stimulus; T cell activation

Disease: Congenital Disorder Of Glycosylation, Type Ir