ALG1 Antibody – Rabbit Polyclonal

ALG1: Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER. Defects in ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K). 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 group 1 family. Glycosyltransferase 33 subfamily.

Protein type: Endoplasmic reticulum; Membrane protein, integral; Transferase; EC 2.4.1.142; Glycan Metabolism - N-glycan biosynthesis

Chromosomal Location of Human Ortholog: 16p13.3

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; membrane

Molecular Function: chitobiosyldiphosphodolichol beta-mannosyltransferase activity; mannosyltransferase activity

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

Disease: Congenital Disorder Of Glycosylation, Type Ik