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- Table of Contents
Facts about Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform.
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Human | |
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Gene Name: | PHKA1 |
Uniprot: | P46020 |
Entrez: | 5255 |
Belongs to: |
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phosphorylase b kinase regulatory chain family |
MGC132604; PHKA; phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform; phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Phosphorylase kinase alpha M subunit; phosphorylase kinase, alpha 1 (muscle); phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
Mass (kDA):
137.312 kDA
Human | |
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Location: | Xq13.1 |
Sequence: | X; NC_000023.11 (72578814..72714306, complement) |
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.
Cell membrane; Lipid-anchor; Cytoplasmic side.
PMID: 8226841 by Wuellrich A., et al. The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.
PMID: 12825073 by Burwinkel B., et al. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.