2.4.1.260: dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase
This is an abbreviated version!
For detailed information about dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase, go to the full flat file.
Word Map on EC 2.4.1.260
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2.4.1.260
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n-glycans
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lipid-linked
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asparagine-linked
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hypoglycosylation
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glc3man9glcnac2
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medicine
- 2.4.1.260
- n-glycans
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lipid-linked
-
asparagine-linked
-
hypoglycosylation
- glc3man9glcnac2
- medicine
Reaction
Synonyms
ALG12, ALG12 alpha1,6mannosyltransferase, ALG12 mannosyltransferase, alpha1-6-mannosyltransferase, Dol-P-Man:Man7GlcNAc2-PP-Dol-alpha1-6-mannosyltransferase, dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl alpha6-mannosyltransferase, dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase, EBS4, EC 2.4.1.130, TbALG12
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Application
Application on EC 2.4.1.260 - dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase
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medicine
a patient with heterozygous variants in the ALG12 gene, c.367 G>A (G123R) and c.1439 T>C (L480P), shows serum transferrin with underoccupancy of N-glycosylation sites. Total serum proteins and IgG N-glycans show accumulating amounts of definite high-mannose and hybrid structures. ALG12-congenital disorder of glycosylation displays CDG-I and II defects and it is associated with distinct, abnormal glycosylation of total serum and IgG N-glycans