NP_002399.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Calculated MW: 52kDa
NCBI Official Full Name
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NCBI Official Synonym Full Names
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NCBI Official Synonym Symbols
GNT2; CDG2A; CDGS2; GNT-II; GLCNACTII [Similar Products]
NCBI Protein Information
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
UniProt Protein Name
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
UniProt Synonym Protein Names
Beta-1,2-N-acetylglucosaminyltransferase II; GlcNAc-T II; GNT-II; Mannoside acetylglucosaminyltransferase 2; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II
UniProt Synonym Gene Names
UniProt Entry Name
MGAT2_HUMAN
NCBI Summary for MGAT2
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]
UniProt Comments for MGAT2
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: EC 2.4.1.143; Membrane protein, integral; Transferase; Glycan Metabolism - N-glycan biosynthesis
Chromosomal Location of Human Ortholog: 14q21
Cellular Component: Golgi apparatus; Golgi membrane; Golgi stack; integral to membrane; membrane
Molecular Function: alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity; carbohydrate binding
Biological Process: cellular protein metabolic process; oligosaccharide biosynthetic process; oligosaccharide metabolic process; post-translational protein modification; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine
Disease: Congenital Disorder Of Glycosylation, Type Iia
Research Articles on MGAT2
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Pathways associated with anti-MGAT2 antibody
Diseases associated with anti-MGAT2 antibody
Organs/Tissues associated with anti-MGAT2 antibody
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