Gene: LOC105375257

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GCK

Alternate names for this Gene: FGQTL3|GK|GLK|HHF3|HK4|HKIV|HXKP|LGLK|MODY2|PNDM1

Gene Summary: This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia.

Gene is located in Chromosome: 7

Location in Chromosome : 7p13

Description of this Gene: glucokinase

Type of Gene: protein-coding

rs2908290 in LOC105375257;GCK gene and Coronary Artery Disease PMID 30525989 2018 Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.

rs10259649 in LOC105375257;GCK gene and Fasting blood glucose measurement PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs2971671 in LOC105375257;GCK gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs2908290 in LOC105375257;GCK gene and Triglycerides measurement PMID 30525989 2018 Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.