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MGP001917

UniProt Annotations

Entry Information
Gene Namemannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
Protein EntryMGAT2_HUMAN
UniProt IDQ10469
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityUDP-N-acetyl-D-glucosamine + 6-(alpha-D- mannosyl)-beta-D-mannosyl-R = UDP + 6-(2-(N-acetyl-beta-D- glucosaminyl)-alpha-D-mannosyl)-beta-D-mannosyl-R.
DiseaseCongenital disorder of glycosylation 2A (CDG2A) [MIM:212066]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. {ECO:0000269|PubMed:11228641, ECO:0000269|PubMed:8808595}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes an essential step in the conversion of oligo- mannose to complex N-glycans.
PathwayProtein modification; protein glycosylation.
Subcellular LocationGolgi apparatus membrane; Single-pass type II membrane protein.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=Alpha-1,6-mannosyl-glycoprotein 2-beta-N- acetylglucosaminyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_534";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=MGAT2";
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