rs1554334478
This variant is located in the GCK gene.
▶ClinVar annotation
not specified; Maturity-onset diabetes of the young; GCK-related disorder; Monogenic diabetes
View on ClinVar →▶Research that mentions this SNP (1)
▶Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescentsCase reportN=82Feigerlová E. et al.(2006)· European Journal of Pediatrics
This case-control study of 82 children with asymptomatic hyperglycaemia identified genetic causes in 48% (39/82): 35 GCK mutations causing MODY2, 2 TCF1 mutations causing MODY3, 1 HNF4A mutation causing MODY1, and 1 KCNJ11 mutation (R201H) causing permanent neonatal diabetes. Additionally, 11 children (13%) had presymptomatic type 1 diabetes detected early, allowing preventive insulin therapy.
About GCK
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. [provided by RefSeq, Aug 2017]
View all GCK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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