GCK
glucokinase
Normal Function
Health Conditions Related to Genetic Changes
Maturity-onset diabetes of the young
Mutations in the GCK gene cause maturity-onset diabetes of the young (MODY), which is a group of conditions characterized by abnormally high blood glucose levels. This form of diabetes usually begins before age 30. GCK gene mutations cause a type known as GCK-MODY (also called MODY2). Affected individuals usually have mildly elevated blood glucose levels from birth, although they typically have no symptoms associated with the condition, and diabetes-related complications are extremely rare.
Most GCK gene mutations involved in GCK-MODY change single protein building blocks in the glucokinase protein or result in an abnormally short version of the protein. The altered protein may be broken down, or the function may be impaired, reducing glucokinase activity in cells. As a result, beta cells are less able to detect changes in blood glucose and release insulin to control it, so blood glucose remains elevated.
More About This Health ConditionRelated Conditions
Maturity-onset diabetes of the youngCongenital hyperinsulinismGestational diabetesPermanent neonatal diabetes mellitus
Health Conditions Related to Genetic Changes
Mutations in the GCK gene cause maturity-onset diabetes of the young (MODY), which is a group of conditions characterized by abnormally high blood glucose levels. This form of diabetes usually begins before age 30. GCK gene mutations cause a type known as GCK-MODY (also called MODY2). Affected individuals usually have mildly elevated blood glucose levels from birth, although they typically have no symptoms associated with the condition, and diabetes-related complications are extremely rare.
Most GCK gene mutations involved in GCK-MODY change single protein building blocks in the glucokinase protein or result in an abnormally short version of the protein. The altered protein may be broken down, or the function may be impaired, reducing glucokinase activity in cells. As a result, beta cells are less able to detect changes in blood glucose and release insulin to control it, so blood glucose remains elevated.
MedlinePlus Genetics provides information about Congenital hyperinsulinism
MedlinePlus Genetics provides information about Gestational diabetes
MedlinePlus Genetics provides information about Permanent neonatal diabetes mellitus