Disease-gene associations mined from literature

Literature associating PPP2CA and Opitz-GBBB syndrome

PPP2CA [ENSP00000418447]

Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform; PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (By similarity). Can dephosphorylate SV40 large T antigen and p53/TP53. Activates RAF1 by dephosphorylating it at 'Ser-259'; Belongs to the PPP phosphatase family. PP-1 subfamily.

Synonyms:  PPP2CA,  PPP2CAp,  hPPP2CA,  B3KQ51,  B3KUN1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM