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2.4.1.143: alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

This is an abbreviated version!
For detailed information about alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, go to the full flat file.

Word Map on EC 2.4.1.143

Reaction

UDP-N-acetyl-alpha-D-glucosamine
+
beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc-N-Asn-[protein]
=
UDP
+
beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc-N-Asn-[protein]

Synonyms

2-beta-N-acetylglucosaminyltransferase, acetylglucosaminyltransferase II, alpha-1,6-mannosyl-glycoprotein beta-1,2-N-acetylglucosaminyltransferase, alpha-1,6-mannosylglycoprotein beta-1-2-N-acetylglucosaminyltransferase, beta-1,2-N-acetylglucosaminyltransferase II, BmGnTII, EC 2.4.1.51, GlcNAc-T II, GlcNAcT-II, GlcNAcTase-II, GnT II, Gnt II-A, Gnt II-B, GnT-II, GnTII, Mgat2, N-acetylglucosaminyltransferase II, N-acetylglucosaminyltransferase-II, N-acetylglucosaminyltransferases II, N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II, TbGnTII, TbGT15, TTV/DEXT1, UDP-GlcNAc:alpha6-D-mannoside beta1,2-N-acetylglucosaminyltransferase II, UDP-GlcNAc:mannoside alpha1-6 acetylglucosaminyltransferase, uridine diphosphoacetylglucosamine-alpha-1,6-mannosylglycoprotein beta-1-2-N-acetylglucosaminyltransferase, uridine diphosphoacetylglucosamine-alpha-D-mannoside beta1-2-acetylglucosaminyltransferase, uridine diphosphoacetylglucosamine-mannoside alpha1->6-acetylglucosaminyltransferase

ECTree

     2 Transferases
         2.4 Glycosyltransferases
             2.4.1 Hexosyltransferases
                2.4.1.143 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

Disease

Disease on EC 2.4.1.143 - alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
alpha-1,6-mannosyl-glycoprotein 2-beta-n-acetylglucosaminyltransferase deficiency
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS).
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.
Anemia
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.
Anemia, Dyserythropoietic, Congenital
Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: association of low level of membrane-bound form of galactosyltransferase.
HEMPAS disease: genetic defect of glycosylation.
HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test.
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II.
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.
Congenital Disorders of Glycosylation
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS).
Infections
Engineering the baculovirus genome to produce galactosylated antibodies in lepidopteran cells.
Intellectual Disability
[Carbohydrate-deficient glycoprotein syndrome]
Neuroblastoma
Knockdown of N-Acetylglucosaminyltransferase-II Reduces Matrix Metalloproteinase 2 Activity and Suppresses Tumorigenicity in Neuroblastoma Cell Line.
Peripheral Nervous System Diseases
[Carbohydrate-deficient glycoprotein syndrome]
phosphomannomutase deficiency
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency.