Phosphorylase kinase, alpha 1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene.[1] It is the muscle isoform of Phosphorylase kinase (PhK).

The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (EC 2.7.1.38), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; MIM 172490), and gamma (PHKG1; MIM 172470 and PHKG2; MIM 172471) subunits have several isoforms; the delta subunit is calmodulin (CALM1; MIM 114180). PHKA2 (MIM 306000) encodes the alpha subunit of liver-specific phosphorylase kinase and is also located on the X chromosome.[supplied by OMIM][1]

A deficiency of this enzyme causes glycogen storage disease type IXd (GSD 9D).

References

  1. 1.0 1.1 "Entrez Gene: PHKA1 phosphorylase kinase, alpha 1 (muscle)".

Further reading

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