人 GAD1 (NM_013445) cDNA克隆

Accession: NM_013445
基因名称: GAD1
基因别名: GAD; SCP; CPSQ1
基因描述: Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD25, mRNA.
种属: Human
CDS区长度: 675 (查看编码区序列)
翻译后氨基酸长度: 224 (查看氨基酸序列)
Transcript Variant: Transcript variant GAD25 represents a truncated form of the full-length transcript variant GAD67.
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G105421 人 GAD1 (NM_013445) cDNA克隆 pDONR223 2ug质粒 点击询价
人 GAD1 (NM_013445) cDNA克隆 transcript variant GAD25
人 GAD1 (NM_000817) cDNA克隆 transcript variant GAD67

This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]