🧬 基因注释：GAD1

官方名称：glutamate decarboxylase 1

功能摘要：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].

• HNRNPC 综合评分: 0.494 · 证据 2 条
• Tardbp 综合评分: 0.403 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CSTF2 综合评分: 0.248 · 证据 2 条
• ELAVL3 综合评分: 0.244 · 证据 1 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• Mbnl2 综合评分: 0.200 · 证据 1 条
• Nova2 综合评分: 0.200 · 证据 1 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• CSTF2T 综合评分: 0.162 · 证据 2 条
• AQR 综合评分: 0.150 · 证据 1 条
• CPSF7 综合评分: 0.150 · 证据 2 条
• MSI1 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF1 综合评分: 0.100 · 证据 1 条

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