Application | Comment | Organism |
---|---|---|
medicine | mutations in GMPPB can result in muscular dystrophy variants with hypoglycosylated alpha--dystroglycan. Muscle biopsies of affected individuals and available fibroblasts display reduced alpha-dystroglycan glycosylation. Five of the identified missense mutations cause formation of aggregates in the cytoplasm or near membrane protrusions | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D27H/V330I | mutation identified in patient with muscular dystrophy | Homo sapiens |
P22S/D334N | mutation identified in patient with muscular dystrophy | Homo sapiens |
P32L/R287Q | mutation identified in patient with muscular dystrophy | Homo sapiens |
R185C | mutation identified in patient with muscular dystrophy | Homo sapiens |
R74*/D334N | mutation identified in patient with muscular dystrophy | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytoplasm | - |
Homo sapiens | 5737 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9Y5P6 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
GTP + alpha-D-mannose 1-phosphate | - |
Homo sapiens | diphosphate + GDP-alpha-D-mannose | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GDP-mannose pyrophosphorylase | - |
Homo sapiens |
GMPPB | - |
Homo sapiens |
guanosine diphosphate mannose pyrophosphorylase | - |
Homo sapiens |