ALG6 Antibody – Rabbit Polyclonal

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

ALG6: Adds the first 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 Man(9)GlcNAc(2)-PP-Dol. Defects in ALG6 are the cause of congenital disorder of glycosylation type 1C (CDG1C); also known as carbohydrate-deficient glycoprotein syndrome type V. CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1C patients have muscular hypotonia, show a delayed statomotor development and are mentally retarded. CDG1C is biochemically characterized by an accumulation of dolichyl pyrophosphate-linked Man(9)GlcNAc(2) in the endoplasmic reticulum. Belongs to the ALG6/ALG8 glucosyltransferase family.

Protein type: EC 2.4.1.267; Glycan Metabolism - N-glycan biosynthesis; Transferase; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1p31.3

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

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

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

Disease: Congenital Disorder Of Glycosylation, Type Ic