GCK - Glucokinase - human protein (Medical)
 
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Protein
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References

 
GCK »  Glucokinase   [ EC 2.7.1.2 ]
 
Protein also known as:  Hexokinase type IV (HK IV).
Gene name:  GCK
Family name: Hexokinase
Entry whose protein(s) existence is based on evidence at protein level
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1 181 3
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by mutations affecting the gene represented in this entry.  
13
  • CuratedUniProtKB
Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Hyperinsulinism due to glucokinase deficiency  79299  
MODY syndrome  552  
Permanent neonatal diabetes mellitus  99885  
 

Keywords

Disease 
Diabetes mellitus  definition   [KW-0219]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2645
GeneReviews: GCK
MIM: 602485
MIM: 125851
MIM: 606391 [ phenotype ]
PharmGKB: PA28610
Polymorphism databases
DMDM: 547696
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.