PGK1 - Phosphoglycerate kinase 1 - human protein (Medical)
 
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Protein
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References

 
PGK1 »  Phosphoglycerate kinase 1   [ EC 2.7.2.3 ]
 
Protein also known as:  Cell migration-inducing gene 10 protein.
Gene name:  PGK1
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 92 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. 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:
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency  713  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Hereditary hemolytic anemia  definition   [KW-0360]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 5230
MIM: 300653
PharmGKB: PA33234
Polymorphism databases
DMDM: 52788229
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.