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

• Phosphorylase kinase alpha M subunit
• PHKA
• PHKA1

Database links

• entrezGene:5255
• omim:311870
• swissprot:P46020

Target type

Proteins

Molecular weight

137312Da