Literature associating SMEK1 and juvenile spinal muscular atrophy
Serine/threonine-protein phosphatase 4 regulatory subunit 3A; Regulatory subunit of serine/threonine-protein phosphatase 4. May regulate the activity of PPP4C at centrosomal microtubule organizing centers. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AFX phosphorylated on 'Ser-140' (gamma-H2AFX) generated during DNA replication and required for DNA DSB repair; Belongs to the SMEK family.
Synonyms: SMEK1, SMEK1p, hSMEK1, A0A024R6M2, G3V231 ...