PHACTR4
Description
The PHACTR4 (phosphatase and actin regulator 4) is a protein-coding gene located on chromosome 1.
PHACTR4 plays a crucial role in regulating protein phosphatase 1 (PP1), which is essential for proper neural tube and optic fissure closure, and the migration of enteric neural crest cells (ENCCs) during development. PHACTR4 acts as an activator of PP1 by binding to PPP1CA and preventing its phosphorylation at 'Thr-320', thus enhancing PP1 activity. During neural tube closure, PHACTR4 localizes to the ventral neural tube, where it activates PP1, leading to reduced cell proliferation in cranial neural tissue and the neural retina. In addition, PHACTR4 regulates ENCC migration by activating PP1, which dephosphorylates and activates cofilin (COF1 or COF2), ultimately repressing integrin signaling through the RHO/ROCK pathway.
PHACTR4 is also known as PPP1R124.
Associated Diseases
- familial atrial fibrillation
- Brugada syndrome
- isolated spina bifida
- long QT syndrome 11
- anencephaly 1
- familial sick sinus syndrome
- Brugada syndrome 9
- long QT syndrome 10
- Brugada syndrome 3
