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Casein kinase 2, alpha 1
Protein and coding gene in humans From Wikipedia, the free encyclopedia
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Casein kinase II subunit alpha is an enzyme that in humans is encoded by the CSNK2A1 gene.[5][6]
Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene.[7]

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Clinical significance
Mutations in CSNK2A1 are causative for Okur-Chung Neurodevelopmental Syndrome (OCNDS).[8] There are "hot spots" where mutations are more likely to occur, with ~33% of individuals with OCNDS harboring the same genetic change: p.Lys198R.[9]
Interactions
Casein kinase 2, alpha 1 has been shown to interact with:
References
Further reading
External links
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