PDP1 - [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial - human protein (Medical)
 
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Protein
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References

 
PDP1 »  [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial   [ EC 3.1.3.43 ]  (PDP 1)
 
Protein also known as:  Pyruvate dehydrogenase phosphatase catalytic subunit 1 (PDPC 1).
Gene name:  PDP1
Family name: PP2C
Entry whose protein(s) existence is based on evidence at protein level
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1 31 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Pyruvate dehydrogenase phosphatase deficiency (PDP deficiency) [MIM:608782]: Results in lactic acidosis leading to neurological dysfunction. 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 phosphatase deficiency  79246  
 

Keywords

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

Further external links

Organism-specific databases
CTD: 54704
MIM: 608782
PharmGKB: PA33607
Polymorphism databases
DMDM: 78099789
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.