Pyruvate Dehydrogenase E1-alpha subunit peptide (ab103930)
- Pathways and Processes
- Metabolic signaling pathways
- Energy transfer pathways
- Energy Metabolism
- PDHCE1APDHE1 A type IPDHE1-A type IPHE1APyruvate Dehydrogenase (lipoamide) alpha 1Pyruvate Dehydrogenase E1 alphaPyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
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.
References for Pyruvate Dehydrogenase E1-alpha subunit peptide (ab103930)
ab103930 has not yet been referenced specifically in any publications.