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

Chromosomal Location of Human Ortholog: 16p13.3

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

Molecular Function: mannosyltransferase activity; chitobiosyldiphosphodolichol beta-mannosyltransferase activity

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

Disease: Congenital Disorder Of Glycosylation, Type Ik