General description

This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants

Immunogen

PYGM (NP_005600.1, 734 a.a. ~ 842 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceDRIPELRQVIEQLSSGFFSPKQPDLFKDIVNMLMHHDRFKVFADYEDYIKCQEKVSALYKNPREWTRMVIRNIATSGKFSSDRTIAQYAREIWGVEPSRQRLPAPDEAI

Physical form

Solution in phosphate buffered saline, pH 7.4