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Details of PYGM gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PYGM | --- | P11217 | PYGM_HUMAN | 5837
| ENSG00000068976
| Glycogen phosphorylase, muscle form | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. Note=The disease is caused by mutations affecting the gene represented in this entry. |
232600 |
