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Peptide Sequence: DRIPELRQVI EQLSSGFFSP KQPDLFKDIV NMLMHHDRFK VFADYEDYIK CQEKVSALYK NPREWTRMVI RNIATSGKFS SDRTIAQYAR EIWGVEPSRQ RLPAPDEAI
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: glycogen muscle; Glycogen phosphorylase, muscle form; GPMM; Myophosphorylase
基因别名: PYGM
UniProt ID: (Human) P11217
Entrez Gene ID: (Human) 5837
分子生物学功能:
glycosyltransferase
transferase
metabolite interconversion enzyme