Literature associating PPP3CA and hypomyelinating leukodystrophy
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase. Many of the substrates contain a PxIxIT motif. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1; Belongs to the PPP phosphatase family. PP-2B subfamily.
Synonyms: PPP3CA, PPP3CAp, hPPP3CA, E7ETC2, E9PK68 ...