PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the glucokinase (hexokinase 4) (GCK) gene, located at chromosome 7p15.3-p15.1, which catalyzes the first step in glucose utilization by the beta cells and liver at physiologic glucose concentrations; the specific role of GCK is to provide glucose-6-phosphate for the synthesis of glycogen. Mutations at this locus have been identified in patients with early-onset (neonatal) mild familial hyperinsulinism (FHI); they are also associated with adult-onset diabetes type II.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all