PHKB
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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 regulatory subunit beta
Normal Function
Health Conditions Related to Genetic Changes
Glycogen storage disease type IX
At least 21 mutations in the PHKB gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXb. This form of the disorder affects the liver and the muscles. The liver problems caused by this disorder include an enlarged liver (hepatomegaly), slow growth, and periods of low blood glucose (hypoglycemia). These features usually improve over time. The condition can also cause mild muscle weakness, although some affected individuals have no muscle problems.
Mutations in the PHKB gene reduce the activity of phosphorylase b kinase in liver and muscle 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 and reduced energy production in muscle cells lead to the features of GSD IXb.
More About This Health ConditionRelated Conditions
Glycogen storage disease type IX
Health Conditions Related to Genetic Changes
At least 21 mutations in the PHKB gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXb. This form of the disorder affects the liver and the muscles. The liver problems caused by this disorder include an enlarged liver (hepatomegaly), slow growth, and periods of low blood glucose (hypoglycemia). These features usually improve over time. The condition can also cause mild muscle weakness, although some affected individuals have no muscle problems.
Mutations in the PHKB gene reduce the activity of phosphorylase b kinase in liver and muscle 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 and reduced energy production in muscle cells lead to the features of GSD IXb.