2.4.1.260: dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase

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For detailed information about dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase, go to the full flat file.

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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

ECTree

     2 Transferases

         2.4 Glycosyltransferases

             2.4.1 Hexosyltransferases

                2.4.1.260 dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase

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Results	in table
7	AA Sequence
1	Application
2	Cloned(Commentary)
16	Disease/ Diagnostics
7	General Information
1	Localization
1	Natural Substrates/ Products (Substrates)
10	Organism
6	Pathway
6	Protein Variants
1	Reaction
9	Reference
1	Source Tissue
1	Substrates and Products (Substrate)
16	Synonyms
1	Systematic Name

Disease

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Disease on EC 2.4.1.260 - dolichyl-P-Man:Man7GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase

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DISEASE

TITLE OF PUBLICATION

LINK TO PUBMED

Congenital Disorders of Glycosylation

Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

11983712

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.

34467644

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

12217961

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.

11983712

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.

34092405

Glioma

Characterization of the 5'-flanking region of the mouse asparagine-linked glycosylation 12 homolog gene.

23818223

Hydronephrosis

Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.

34092405

Metabolic Diseases

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

34467644

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