🧬 基因注释：DLD
📝 官方信息
官方名称：dihydrolipoamide dehydrogenase
功能摘要：This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.494 · 证据 2 条
- HNRNPL 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- RBM22 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- ELAVL3 综合评分: 0.306 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录