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 1.2.4.1 ]
 
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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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
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.  
14
  • CuratedUniProtKB
Leigh syndrome, X-linked (X-LS) [MIM:308930]: A X-linked form of Leigh syndrome, an early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum, and spinal cord. The lesions are areas of demyelination, gliosis, necrosis, spongiosis, or capillary proliferation. Clinical symptoms depend on which areas of the central nervous system are involved and include psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. The disease is caused by mutations affecting the gene represented in this entry.  
5
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Leigh syndrome with cardiomyopathy  70474  
Pyruvate dehydrogenase E1-alpha deficiency  79243  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drug:
NADH  DB00157  
 

Keywords

Disease 
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
MIM: 312170
MIM: 308930
PharmGKB: PA33150
Polymorphism databases
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.