Specificity
This antibody recognises pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial, also known as PDHE1-A type 1 and PHE1A. The PDHA1 gene encodes part of the mitochondrial pyruvate dehydrogenase (PDH) complex, which converts pyruvate to acetyl-CoA and CO2. PDHA1 deficiency leads to mitochondrial dysfunction, and is associated with poor outcome in multiple cancer types. The gene encoding PDHA1 is located on the X-chromosome, and mutations result in metabolic disorders, intellectual disability and early death.