PDHX
Function
Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex.
Involvement in disease
Pyruvate dehydrogenase E3-binding protein deficiency
PDHXD
A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Delipoylated at Lys-97 by SIRT4, delipoylation decreases the PHD complex activity.
Sequence Similarities
Belongs to the 2-oxoacid dehydrogenase family.
Cellular localization
- Mitochondrion matrix
Alternative names
PDX1, PDHX, Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex, E3-binding protein, Lipoyl-containing pyruvate dehydrogenase complex component X, proX, E3BP