PHKG2
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
phosphorylase kinase catalytic subunit gamma 2
Normal Function
Health Conditions Related to Genetic Changes
Glycogen storage disease type IX
At least 30 mutations in the PHKG2 gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXc. This form of the disorder affects liver function and causes an enlarged liver (hepatomegaly), slow growth, and periods of low blood glucose (hypoglycemia) in affected individuals. These features usually improve over time. However, PHKG2 gene mutations have been associated with more severe signs and symptoms such as irreversible liver disease (cirrhosis).
Mutations in the PHKG2 gene reduce the activity of phosphorylase b kinase in liver cells, although the mechanism is unknown. Reduction of this enzyme's function impairs glycogen breakdown. As a result, glycogen builds up in cells, and glucose is not available for energy. The inability to break down glycogen in the liver causes the features of GSD IXc.
More About This Health ConditionRelated Conditions
Glycogen storage disease type IX
Health Conditions Related to Genetic Changes
At least 30 mutations in the PHKG2 gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXc. This form of the disorder affects liver function and causes an enlarged liver (hepatomegaly), slow growth, and periods of low blood glucose (hypoglycemia) in affected individuals. These features usually improve over time. However, PHKG2 gene mutations have been associated with more severe signs and symptoms such as irreversible liver disease (cirrhosis).
Mutations in the PHKG2 gene reduce the activity of phosphorylase b kinase in liver cells, although the mechanism is unknown. Reduction of this enzyme's function impairs glycogen breakdown. As a result, glycogen builds up in cells, and glucose is not available for energy. The inability to break down glycogen in the liver causes the features of GSD IXc.