PHKA1
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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 alpha 1
Normal Function
Health Conditions Related to Genetic Changes
Glycogen storage disease type IX
At least seven mutations in the PHKA1 gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXd or X-linked muscle glycogenosis. This form of the disorder is rare and not well understood. It affects muscles and can cause muscle weakness, pain, and cramping, particularly during exercise, although some affected individuals have no signs or symptoms of the condition. Mutations in the PHKA1 gene reduce the activity of phosphorylase b kinase in 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. Reduced energy production in muscle cells leads to the features of GSD IXd.
More About This Health ConditionRelated Conditions
Glycogen storage disease type IX
Health Conditions Related to Genetic Changes
At least seven mutations in the PHKA1 gene are known to cause a form of glycogen storage disease type IX (GSD IX) called GSD IXd or X-linked muscle glycogenosis. This form of the disorder is rare and not well understood. It affects muscles and can cause muscle weakness, pain, and cramping, particularly during exercise, although some affected individuals have no signs or symptoms of the condition. Mutations in the PHKA1 gene reduce the activity of phosphorylase b kinase in 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. Reduced energy production in muscle cells leads to the features of GSD IXd.