PPP2R5C

The protein encodes the gamma isoform of the B56 regulatory subunit of protein phosphatase 2A, which modulates substrate selectivity and catalytic activity of this major serine/threonine phosphatase involved in controlling cell growth and division. Mutations cause Houge-Janssens syndrome 4, inherited in an autosomal dominant pattern. The high pLI score (0.97) and low LOEUF score (0.32) indicate the gene is highly intolerant to loss-of-function variants, suggesting haploinsufficiency as the likely pathogenic mechanism.