Human Pyruvate Dehydrogenase E1-alpha subunit peptide (ab103930)
- Product nameHuman Pyruvate Dehydrogenase E1-alpha subunit peptideSee all Pyruvate Dehydrogenase E1-alpha subunit proteins and peptides ...
Our Abpromise guarantee covers the use of ab103930 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
- Purity70 - 90% by HPLC.
- Concentration information loading...
Preparation and Storage
- Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Information available upon request.
- PDHE1 A type I
- PDHE1-A type I
- Pyruvate Dehydrogenase (lipoamide) alpha 1
- Pyruvate dehydrogenase complex, E1 alpha polypeptide 1
- Pyruvate Dehydrogenase E1 alpha
- Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
- 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).
- Tissue specificityUbiquitous.
- 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.
References for Human Pyruvate Dehydrogenase E1-alpha subunit peptide (ab103930)
ab103930 has not yet been referenced specifically in any publications.