Disease-gene associations mined from literature

Literature associating ARPP19 and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

ARPP19 [ENSP00000455625]

cAMP-regulated phosphoprotein, 19kDa; Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression; Belongs to the endosulfine family.

Synonyms:  ARPP19,  ARPP19p,  hARPP19,  A0A024R5U3,  ARPP-19 ...

Linkouts:  STRING  Pharos  UniProt