🧬 基因注释：DBT
📝 官方信息
官方名称：dihydrolipoamide branched chain transacylase E2
功能摘要：The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.448 · 证据 2 条
- PTBP1 综合评分: 0.362 · 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
- HNRNPM 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 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: 0.224 · 证据 1 条
- Rbmx 综合评分: 0.224 · 证据 1 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- MATR3 综合评分: 0.200 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录