Reynhout et al., 2018 reported 16 individuals with de novo variants in the PPP2CA gene who presented with syndromic developmental delay/intellectual disability; five of these individuals presented with ASD or PDD-NOS, while two other individuals presented with stereotypic behavior or movements.
Molecular Function
This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Mutations Affecting the Catalytic C Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurode...
