Disease-gene associations mined from literature

Literature associating PPP2R4 and autosomal dominant dyskeratosis congenita 3

PPP2R4 [ENSP00000377036]

Serine/threonine-protein phosphatase 2A regulatory subunit 4; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Acts as a regulatory subunit for serine/threonine- protein phosphatase 2A (PP2A) modulating its activity or substrate specificity, probably by inducing a conformational change in the catalytic subunit, a proposed direct target of the PPIase. Can reactivate inactive phosphatase PP2A-phosphatase methylesterase complexes (PP2A(i)) in presence of ATP and Mg(2+) (By similarity). Reversibly stimulates the variable phosphotyrosyl phosphatase activity of PP2A core heterodimer PP2A(D) in presence of ATP and Mg(2+) (in vitro). The phosphotyrosyl phosphatase activity is dependent of an ATPase activity of the PP2A(D):PPP2R4 complex. Is involved in apoptosis; the function appears to be independent from PP2A.

Synonyms:  PPP2R4,  PPP2R4p,  hPPP2R4,  A6PVN5,  A6PVN6 ...

Linkouts:  STRING  Pharos  UniProt