pyruvate dehydrogenase E1-beta (PDHE1-beta, PDHE1-B, PDHB, PHE1B)

Function

T

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

Compartment

mitochondrial matrix

Alternative splicing

named isoforms=2

Pathology

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

More general terms

• protein subunit

Component of

• pyruvate dehydrogenase E1

Database

• UniProt: http://www.uniprot.org/uniprot/P11177.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5162
• OMIM: https://mirror.omim.org/entry/179060
• OMIM: https://mirror.omim.org/entry/312170