人 GYS1 (NM_001161587) cDNA克隆

Accession: NM_001161587
基因名称: GYS1
基因别名: GSY; GYS
基因描述: Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2022 (查看编码区序列)
翻译后氨基酸长度: 673 (查看氨基酸序列)
Transcript Variant: This variant (2) is missing an in-frame coding exon at the 3' end compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
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G102508 人 GYS1 (NM_001161587) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]