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Literature summary extracted from

  • Dupre, T.; Vuillaumier-Barrot, S.; Chantret, I.; Yaye, H.S.; Le Bizec, C.; Afenjar, A.; Altuzarra, C.; Barnerias, C.; Burglen, L.; de Lonlay, P.; Feillet, F.; Napuri, S.; Seta, N.; Moore, S.E.
    Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations (2010), J. Med. Genet., 47, 729-735.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.142 C396Y the mutation is associated with congenital disorders of glycosylation Homo sapiens
2.4.1.142 G145D the mutation is associated with congenital disorders of glycosylation Homo sapiens
2.4.1.142 M377V the mutation is associated with congenital disorders of glycosylation Homo sapiens
2.4.1.142 R276W the mutation is associated with congenital disorders of glycosylation Homo sapiens
2.4.1.142 R438W the mutation is associated with congenital disorders of glycosylation Homo sapiens
2.4.1.142 S150R the mutation is associated with congenital disorders of glycosylation Homo sapiens
2.4.1.142 S258L the mutation is associated with congenital disorders of glycosylation Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
2.4.1.142 microsome
-
 Homo sapiens
-
-

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.142 Homo sapiens Q9BT22
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.4.1.142 skin fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.142 GDP-alpha-D-mannose + diphosphodolichyl-N-acetyl-D-glucosaminyl-N-acetyl-D-glucosamine
-
 Homo sapiens GDP + beta-(1->4)-D-mannosylchitobiosyl diphosphodolichol
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.142 ALG1
-
 Homo sapiens
2.4.1.142 guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1
-
 Homo sapiens
2.4.1.142 MT-1
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.1.142 malfunction a deficiency in guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase-1 causes type I congenital disorders of glycosylation Homo sapiens