ALG8 Antibody – Mouse Monoclonal

ALG8: Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol. Defects in ALG8 are the cause of congenital disorder of glycosylation type 1H (CDG1H). 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 ALG6/ALG8 glucosyltransferase family.

Protein type: EC 2.4.1.265; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Transferase

Chromosomal Location of Human Ortholog: 11q14.1

Cellular Component: endoplasmic reticulum membrane; integral component of membrane

Molecular Function: alpha-1,3-mannosyltransferase activity; dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity; protein binding

Biological Process: dolichol-linked oligosaccharide biosynthetic process; oligosaccharide-lipid intermediate biosynthetic process; protein N-linked glycosylation

Disease: Congenital Disorder Of Glycosylation, Type Ih