| 别名 | PDHA1 ODPA |
| 基因名称 | Endogenous |
| 蛋白名称 | PDHA1 PHE1A |
| 推荐应用 | |
| 反应物种 | Pyruvate Dehydrogenase E1 α |
| 存储缓冲液 | IHC 1:200-1:1000;WB 1:1000-1:5000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200, |
| Human Gene Link | PDHA1;PHE1A;Pyruvate dehydrogenase E1 component subunit alpha;somatic form, mitochondrial;PDHE1-A type I |
| Human Swissprot No. | 5160 |
| Mouse Gene ID | P08559 |
| Mouse Swissprot No. | 18597 |
| Rat Swissprot No. | P26284 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 43kD |
| 预测分子量 | WB,IHC,IF,IP,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 43kD |
| 同种型 | Rabbit |
| 背景介绍 | 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], |
| 细胞定位 | Mitochondrion matrix |
| 功能 | Catalytic activity:Pyruvate + [dihydrolipoyllysine-residue acetyltransferase] lipoyllysine = [dihydrolipoyllysine-residue acetyltransferase] S-acetyldihydrolipoyllysine + CO(2).,cofactor:Thiamine pyrophosphate.,Disease:Defects in PDHA1 are a cause of pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) [MIM:312170]. PDHE1 deficiency is the most common enzyme defect in patients with primary lactic acidosis. It is associated with variable clinical phenotypes ranging from neonatal death to prolonged survival complicated by developmental delay, seizures, ataxia, apnea, and in some cases to an X-linked form of Leigh syndrome (LS) (Leigh encephalomyelopathy).,Disease:Defects in PDHA1 are the cause of X-linked Leigh syndrome (LS) [MIM:308930]. LS is an early-onset progressive neurodegenerative disorder with a characteristic neuropathology consisting of focal, bilateral lesions in one or more areas of the central nervous system, including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved. The most common underlying cause is a defect in oxidative phosphorylation. LS may be a feature of a deficiency of any of the mitochondrial respiratory chain complexes.,enzyme regulation:E1 activity is regulated by phosphorylation (inactivation) and dephosphorylation (activation) of the alpha subunit.,Function:The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3).,subunit:Tetramer of 2 alpha and 2 beta subunits.,tissue specificity:Ubiquitous., |
| 纯化 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Clonality | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 修饰类型 | IgG,Kappa |
| 细胞定位 | Mitochondrion matrix |
| 组织表达 | Ubiquitous. |
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