Article
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).
PloS one - 1 Jan 2012
Søberg Kristoffer, Larsen Anja C V, Diskar Mandy, Backe Paul H, Bjørås Magnar, Jahnsen Tore, Laerdahl Jon K, Rognes Torbjørn, Herberg Friedrich W, Skålhegg Bjørn S
Abstract excerpt
The genes PRKACA and PRKACB encode the principal catalytic (C) subunits of protein kinase A (PKA) Cα and Cβ, respectively. Cα is expressed in all eukaryotic tissues examined and studies of Cα knockout mice demonstrate a crucial role for Cα in normal physiology. We have sequenced exon 2 through 10 of PRKACA from the genome of 498 Norwegian donors and extracted information about PRKACA mutations from public...
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