🧬 基因注释：PDHA1

官方名称：pyruvate dehydrogenase E1 subunit alpha 1

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 CO(2), 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 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].

• HNRNPA1 综合评分: 0.412 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPD 综合评分: 0.362 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• KHSRP 综合评分: 0.362 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• Mbnl2 综合评分: 0.298 · 证据 1 条
• Tardbp 综合评分: 0.274 · 证据 1 条
• PRPF8 综合评分: 0.262 · 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
• TIA1 综合评分: 0.250 · 证据 1 条

该基因暂无关联疾病记录