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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GENE REF ISO

Medical

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Disease 
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.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Pyruvate dehydrogenase E3-binding protein deficiency  255182  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 8050
MIM: 245349
PharmGKB: PA134976445
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.