DISEASES

Disease-gene associations mined from literature

Literature on PHACTR4

PHACTR4 [ENSP00000362942]

Phosphatase and actin regulator 4; Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).

Synonyms:  PHACTR4,  PHACTR4p,  hPHACTR4,  A0A0J9YVR0,  A0A0J9YWV8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM