🧬 基因注释：PDHB
官方名称：pyruvate dehydrogenase E1 subunit beta
功能摘要：The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012].
- FUS 综合评分: 0.460 · 证据 1 条
- RBFOX2 综合评分: 0.460 · 证据 2 条
- fus 综合评分: 0.460 · 证据 1 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- Tardbp 综合评分: 0.430 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 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
- Srsf3 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.298 · 证据 1 条
- U2af1 综合评分: 0.274 · 证据 1 条
- U2af2 综合评分: 0.274 · 证据 1 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
该基因暂无关联疾病记录