8jfk

Structural highlights

Disease

KPBB_HUMAN Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency. The disease is caused by variants affecting the gene represented in this entry.

Function

KPBB_HUMAN Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.