PDHA1 - Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial - human protein (Medical)
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PDHA1 »  Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial   [ EC ]
Protein also known as:  PDHE1-A type I.
Gene name:  PDHA1
Entry whose protein(s) existence is based on evidence at protein level
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1 102 4

Displayed isoform: Iso 1     



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Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. The disease is caused by mutations affecting the gene represented in this entry.  
  • UniProtKB
According to Orphanet, this protein is involved in the following diseases:
Leigh syndrome with cardiomyopathy  70474  
Pyruvate dehydrogenase E1-alpha deficiency  79243  


Disease mutation  definition   [KW-0225]
Leigh syndrome  definition   [KW-0431]
Technical term 
Reference proteome  definition   [KW-1185]

Further external links

Organism-specific databases
CTD: 5160
MalaCards: PDHA1
MIM: 312170
PharmGKB: PA33150
Polymorphism and mutation databases
BioMuta: PDHA1
DMDM: 129063
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.