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 |