Details for Gene PHKA1

GENE NAME PHKA1
CHROMOSOME X
ENSEMBL ID ENSG00000067177
ENTREZ ID 5255
UNIPROT ACCESSION NUMBER P46020
GO MOLECULAR FUNCTION protein binding; calmodulin binding; phosphorylase kinase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04922; R-HSA-1430728; R-HSA-71387; hsa04922; R-HSA-1430728; R-HSA-71387; R-HSA-8982491; hsa04910; R-HSA-70221; R-HSA-8982491; hsa04910; R-HSA-70221; hsa04020; hsa04020
1 combination linked to PHKA1 OLI807
1 variant linked to PHKA1 PHKA1:p.Leu718Phe
1 disease linked to PHKA1 Recurrent exertional rhabdomyolysis

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