反应种属
Human;Mouse;Rat;Bovine;Dog;Pig
基因名称(Gene Name)
PDHA1 ODPA
蛋白名称
Pyruvate dehydrogenase E1 component subunit alpha somatic form mitochondrial
免疫原
Purified recombinant human PDH-E1α (C-terminus) protein fragments expressed in E.coli.
特异性
PDH-E1α Monoclonal Antibody detects endogenous levels of PDH-E1α protein.
组成
Purified mouse monoclonal in buffer containing 0.1M Tris-Glycine (pH 7.4, 150 mM NaCl) with 0.2% sodium azide, 50% glycerol.
稀释比例
Western Blot: 1/1000 - 1/2000. Immunofluorescence: 1/100 - 1/500. Not yet tested in other applications.
纯化工艺
Affinity purification
其他名称
PDHA1; PHE1A; Pyruvate dehydrogenase E1 component subunit alpha; somatic form, mitochondrial; PDHE1-A type I
背景
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],
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 o
