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- Table of Contents
Facts about Phosphorylase b kinase regulatory subunit alpha, liver isoform.
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Human | |
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Gene Name: | PHKA2 |
Uniprot: | P46019 |
Entrez: | 5256 |
Belongs to: |
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phosphorylase b kinase regulatory chain family |
GSD9A; MGC133071; PHK; PHKLA; phosphorylase b kinase regulatory subunit alpha liver isoform; phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase kinase alpha L subunit; phosphorylase kinase alpha-subunit; phosphorylase kinase, alpha 2 (liver); PYK; PYKL; XLG; XLG2
Mass (kDA):
138.408 kDA
Human | |
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Location: | Xp22.13 |
Sequence: | X; NC_000023.11 (18892298..18984114, complement) |
Predominantly expressed in liver and other non-muscle tissues.
Cell membrane; Lipid-anchor; Cytoplasmic side.
PMID: 7847371 by van den Berg I.E.T., et al. X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
PMID: 7549948 by Hirono H., et al. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.