Recombinant Human PDHA1 protein (ab125602)
Key features and details
- Expression system: Escherichia coli
- Purity: > 85% Densitometry
- Tags: His tag N-Terminus
- Suitable for: Functional Studies, WB, SDS-PAGE
Product nameRecombinant Human PDHA1 protein
See all PDHA1 proteins and peptides
Purity> 85 % Densitometry.
Expression systemEscherichia coli
Protein lengthFull length protein
Predicted molecular weight47 kDa
Amino acids30 to 390
TagsHis tag N-Terminus
Our Abpromise guarantee covers the use of ab125602 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ab125602 (Human Pyruvate Dehydrogenase E1-alpha subunit full length protein) can be utilized as a substrate for the following active protein Kinases:
ab125560 (Active human PDK4 full length protein)
ab125580 (Active human Mitochondrial Pyruvate dehydrogenase kinase 1 full length protein)
ab125592 (Active human PDK2 full length protein)
ab125606 (Active human PDK3 full length protein)
Concentration information loading...
Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
Preservative: 1.02% Imidazole
Constituents: 0.002% PMSF, 0.81% Sodium phosphate, 0.004% DTT, 25% Glycerol (glycerin, glycerine), 1.75% Sodium chloride
FunctionThe 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).
Involvement in diseaseDefects 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 (X-LS).
Defects in PDHA1 are the cause of X-linked Leigh syndrome (X-LS) [MIM:308930]. X-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.
Cellular localizationMitochondrion matrix.
- Information by UniProt
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
ab125602 has not yet been referenced specifically in any publications.