PHKA1
Function
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
Involvement in disease
Glycogen storage disease 9D
GSD9D
A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Glycan biosynthesis; glycogen metabolism.
Post-translational modifications
Although the final Cys may be farnesylated, the terminal tripeptide is probably not removed, and the C-terminus is not methylated.
Sequence Similarities
Belongs to the phosphorylase b kinase regulatory chain family.
Tissue Specificity
Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested.
Cellular localization
- Cell membrane
- Lipid-anchor
- Cytoplasmic side
Alternative names
PHKA, PHKA1, Phosphorylase kinase alpha M subunit