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
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asparagine-linked
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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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Disease
Disease on EC 2.4.1.260 - dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase
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Congenital Disorders of Glycosylation
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Glioma
Characterization of the 5'-flanking region of the mouse asparagine-linked glycosylation 12 homolog gene.
Hydronephrosis
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Metabolic Diseases
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
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