Presku: | AAP33072 |
Size: | 100 ug |
Weight: | 46kDa |
Gene: | 5261 |
Format: | Lyophilized powder |
Target: | Mutations in PHKG2 along with PHKA2 and PHKB, all three different genes of phosphorylase kinase (Phk) subunits, can give rise to glycogen storage disease of the liver. The autosomal-recessive, liver-specific variant of Phk deficiency is caused by mutations in the gene encoding the testis/liver isoform of the catalytic gamma subunit, PHKG2. |