Mannoside Acetylglucosaminyltransferase 2 (MGAT2) Human Recombinant Protein

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MGAT2: Catalyzes an essential step in the conversion of oligo- mannose to complex N-glycans. Defects in MGAT2 are the cause of congenital disorder of glycosylation type 2A (CDG2A); also known as carbohydrate-deficient glycoprotein syndrome type II. 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.

Protein type: Membrane protein, integral; EC 2.4.1.143; Glycan Metabolism - N-glycan biosynthesis; Transferase

Chromosomal Location of Human Ortholog: 14q21

Cellular Component: Golgi membrane; Golgi apparatus; Golgi stack; membrane; integral to membrane

Molecular Function: alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity; carbohydrate binding

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

Disease: Congenital Disorder Of Glycosylation, Type Iia