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Literature summary extracted from

  • Lommel, M.; Cirak, S.; Willer, T.; Hermann, R.; Uyanik, G.; van Bokhoven, H.; Koerner, C.; Voit, T.; Bari?, I.; Hehr, U.; Strahl, S.
    Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies (2010), Neurology, 74, 157-164.
    View publication on PubMed

Application

EC Number Application Comment Organism
2.4.1.109 diagnostics analysis of fibroblasts to elucidate the phenotypes of POMT1 mutations Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
2.4.1.109 PCR-amplification of blood derived enzyme gene Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.4.1.109 L171A stable enzyme with reduced activity causing phenotype limb girdle muscular dystrophy 2K, together with partial heterozygous deletion p.A589VfsX38 mutant, reduced amounts of O-mannosyl linked glyco-epitope (IIH6) on alpha-dystroglycans resulting in less than 100-125 kDa alpha-dystroglycans, about 40% residual enzyme activity Homo sapiens
2.4.1.109 additional information heterozygous deletion leading to a frame shift mutation causing an amino acid exchange A589V and a premature stop codon after 38 amino acids (p.A589VfsX38), reduced enzyme stability, reduced amounts of O-mannosyl linked glyco-epitope (IIH6) on alpha-dystroglycans resulting in less than 100-125 kDa alpha-dystroglycans, about 40% residual enzyme activity, phenotype limb girdle muscular dystrophy 2K Homo sapiens

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
2.4.1.109 additional information
-
 Walker-Warburg syndrome p.del77-93 mutant enzyme is not detectable, Western blot analysis, SDS-PAGE with antibody staining Homo sapiens
2.4.1.109 71000
-
 limb girdle muscular dystrophy deletion mutant p.A589VfsX38 enzyme, Western blot analysis, SDS-PAGE with antibody staining Homo sapiens
2.4.1.109 85000
-
 limb girdle muscular dystrophy mutant L171A enzyme, Western blot analysis, SDS-PAGE with antibody staining Homo sapiens
2.4.1.109 85000
-
 wild-type enzyme, Western blot analysis, SDS-PAGE with antibody staining Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
2.4.1.109 Homo sapiens Q9Y6A1 one patient with limb girdle muscular dystrophy 2K, one patient with Walker-Warburg syndrome
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.4.1.109 blood
-
 Homo sapiens
-
2.4.1.109 fibroblast dermal Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.4.1.109 dolichyl phosphate D-mannose + alpha-dystroglycan glutathione-S-transferase fusion protein sugar donor tritium-labeled Homo sapiens dolichyl phosphate + O-D-mannosyl-[alpha-dystroglycan]
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.4.1.109 O-mannosyltransferase
-
 Homo sapiens
2.4.1.109 POMT1
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.4.1.109 malfunction dystroglycanopathies (muscular dystrophy due to abnormal glycosylation of alpha-dystroglycan) such as the severe Walker-Warburg syndrome (brain and eye abnormalities, mild limb girdle muscular dystrophy) Homo sapiens