DPAGT1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]

DPAGT1: Catalyzes the initial step in the synthesis of dolichol- P-P-oligosaccharides. Defects in DPAGT1 are the cause of congenital disorder of glycosylation type 1J (CDG1J). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders 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. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the glycosyltransferase 4 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase; EC 2.7.8.15; Membrane protein, integral; Membrane protein, multi-pass; Glycan Metabolism - N-glycan biosynthesis; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 11q23.3

Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; membrane; integral to membrane; integral to endoplasmic reticulum membrane

Molecular Function: UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity; transferase activity, transferring glycosyl groups; phospho-N-acetylmuramoyl-pentapeptide-transferase activity

Biological Process: polysaccharide biosynthetic process; UDP-N-acetylglucosamine metabolic process; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine; dolichol biosynthetic process; post-translational protein modification; protein oligomerization

Disease: Congenital Disorder Of Glycosylation, Type Ij; Myasthenic Syndrome, Congenital, With Tubular Aggregates 2