The immunogen is a synthetic peptide directed towards the N terminal region of human PHKG2
Alternative Names:
GSD9C
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.