人 PYGM (NM_001164716) cDNA克隆

Accession: NM_001164716
基因名称: PYGM
基因描述: Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2265 (查看编码区序列)
翻译后氨基酸长度: 754 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks two exons uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
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G122335 人 PYGM (NM_001164716) cDNA克隆 pDONR223 2ug质粒 点击询价

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.[provided by RefSeq, Sep 2009]