🧬 基因注释：BCKDHA

官方名称：branched chain keto acid dehydrogenase E1 subunit alpha

功能摘要：The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].

• RBFOX2 综合评分: 0.460 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• PRPF8 综合评分: 0.298 · 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
• PCBP2 综合评分: 0.200 · 证据 1 条
• U2af2 综合评分: 0.162 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• CSTF2 综合评分: 0.150 · 证据 2 条
• PABPC4 综合评分: 0.150 · 证据 2 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Tardbp 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
• CPSF3 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• EIF4A3 综合评分: 0.100 · 证据 2 条

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