DISEASES

Disease-gene associations mined from literature

Literature associating SMEK1 and juvenile spinal muscular atrophy

SMEK1 [ENSP00000450864]

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 ...

Linkouts:  STRING  Pharos  UniProt