ALG9 Antibody – Rabbit Polyclonal

This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

ALG9: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L). 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. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; EC 2.4.1.259; Transferase; EC 2.4.1.261; Glycan Metabolism - N-glycan biosynthesis; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11q23

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

Molecular Function: mannosyltransferase activity

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

Disease: Congenital Disorder Of Glycosylation, Type Il