PDHX - Pyruvate dehydrogenase protein X component, mitochondrial - human protein (Medical)
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PDHX »  Pyruvate dehydrogenase protein X component, mitochondrial
Protein also known as:  Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex.
Gene name:  PDHX
Entry whose protein(s) existence is based on evidence at protein level
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1 48 3

Displayed isoform: Iso 1     



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Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]: 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 mutations affecting the gene represented in this entry.  
  • UniProtKB
According to Orphanet, this protein is involved in the following disease:
Pyruvate dehydrogenase E3-binding protein deficiency  255182  


Technical term 
Reference proteome  definition   [KW-1185]

Further external links

Organism-specific databases
CTD: 8050
MIM: 245349
PharmGKB: PA134976445
Polymorphism and mutation databases
BioMuta: PDHX
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.