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.
Biological Context
Subcellular Location: Mitochondrion matrix
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Pyruvate dehydrogenase protein X component, mitochondrial (PDHX) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 54-501aa, with N-terminal 6xHis-tagged tag, molecular weight 52.1kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
