人 GYS1 (NM_002103) cDNA克隆

Accession: NM_002103
基因名称: GYS1
基因别名: GSY; GYS
基因描述: Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2214 (查看编码区序列)
翻译后氨基酸长度: 737 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longer isoform (1)
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G102509 人 GYS1 (NM_002103) 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]