Entity Details

Primary name PHKA1
Entity type gene
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Details

PrimaryID5255
RefseqGeneNG_016599
SymbolPHKA1
Namephosphorylase kinase regulatory subunit alpha 1
ChromosomeX
LocationXq13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKPB1_HUMAN

GO terms

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GOName
GO:0004689 phosphorylase kinase activity
GO:0005516 calmodulin binding
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005964 phosphorylase kinase complex
GO:0005977 glycogen metabolic process
GO:0005980 glycogen catabolic process
GO:0006091 generation of precursor metabolites and energy

Diseases

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Disease IDSourceNameDescription
300559 OMIMGlycogen storage disease 9D (GSD9D)A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria. The disease is caused by variants affecting the gene represented in this entry.