CSNK2A2

The protein functions as a catalytic subunit of casein kinase 2, a constitutively active serine/threonine kinase that phosphorylates numerous substrates and regulates critical cellular processes including cell cycle progression, apoptosis, transcription, and DNA repair. Loss-of-function mutations in this gene cause autosomal dominant neurodevelopmental disorders, with the gene showing extreme intolerance to loss-of-function variants (pLI = 0.999, LOEUF = 0.184). The pathogenic mechanism involves haploinsufficiency, where reduced kinase activity disrupts the coordinated cellular signaling networks essential for normal neurological development.