ALG2 Antibody – Rabbit Polyclonal

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

ALG2: Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)- dolichol diphosphate. Defects in ALG2 are the cause of congenital disorder of glycosylation type 1I (CDG1I). 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 4 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.257; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, integral; Transferase; EC 2.4.1.132

Chromosomal Location of Human Ortholog: 9q22.33

Cellular Component: endoplasmic reticulum membrane; membrane; perinuclear region of cytoplasm; cytoplasm; integral to membrane; nucleus

Molecular Function: protein binding; protein heterodimerization activity; glycolipid 3-alpha-mannosyltransferase activity; glycolipid 6-alpha-mannosyltransferase activity; alpha-1,3-mannosyltransferase activity; protein N-terminus binding; calcium-dependent protein binding

Biological Process: protein amino acid glycosylation in endoplasmic reticulum; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; response to calcium ion

Disease: Congenital Disorder Of Glycosylation, Type Ii; Myasthenic Syndrome, Congenital, With Tubular Aggregates 3