ALG12 Antibody – Rabbit Polyclonal

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

ALG12: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP- Man(7)GlcNAc(2)) required for protein glycosylation. Defects in ALG12 are the cause of congenital disorder of glycosylation type 1G (CDG1G). 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 22 family.

Protein type: Membrane protein, integral; Glycan Metabolism - N-glycan biosynthesis; Transferase; EC 2.4.1.260; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 22q13.33

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

Molecular Function: alpha-1,6-mannosyltransferase activity; mannosyltransferase activity

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

Disease: Congenital Disorder Of Glycosylation, Type Ig