pyruvate dehydrogenase E1-alpha 1; pyruvate dehydrogenase E1 alpha - somatic form; PDHE1-A type 1 (PDHA1, PHE1A)

Function

• component of pyruvate dehydrogenase E1, which is component of pyruvate dehydrogenase complex

Compartment

mitochondrial matrix

Expression

ubiquitous

Pathology

• defects in PDHA1 are a cause of PDHE1 deficiency
• defects in PDHA1 are a cause of X-linked Leigh syndrome

Laboratory

• PDHA1 gene mutation

More general terms

• pyruvate dehydrogenase E1-alpha

Database

• UniProt: http://www.uniprot.org/uniprot/P08559.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5160
• OMIM: https://mirror.omim.org/entry/300502
• OMIM: https://mirror.omim.org/entry/308930
• OMIM: https://mirror.omim.org/entry/312170