PGAM2 - Phosphoglycerate mutase 2 - human protein (Medical)
 
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Protein
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References

 
PGAM2 »  Phosphoglycerate mutase 2   [ EC 5.4.2.4EC 5.4.2.11EC 3.1.3.13 ]
 
Protein also known as:  Muscle-specific phosphoglycerate mutase.
Gene name:  PGAM2
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 19 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Glycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Glycogen storage disease due to phosphoglycerate mutase deficiency  97234  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Glycogen storage disease  definition   [KW-0322]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 5224
MIM: 261670
PharmGKB: PA33226
Polymorphism databases
DMDM: 130353
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.