Article
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Neurogenetics - 1 Jan 2016
Shang Linshan, Henderson Lindsay B, Cho Megan T, Petrey Donald S, Fong Chin-To, Haude Katrina M, Shur Natasha, Lundberg Julie, Hauser Natalie, Carmichael Jason, Innis Jeffrey, Schuette Jane, Wu Yvonne W, Asaikar Shailesh, Pearson Margaret, Folk Leandra, Retterer Kyle, Monaghan Kristin G, Chung Wendy K
Abstract excerpt
Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and glycogen synthase kinase 3 beta (GSK3β)-mediated cell growth, chromatin remodeling, and gene transcriptional...
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