PHACTR1 gene

phosphatase and actin regulator 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

From UniProt:

Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755). Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity).

Covered on Genetics Home Reference:

From NCBI Gene:

  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70

From UniProt:

Epileptic encephalopathy, early infantile, 70 (EIEE70): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE70 is an autosomal dominant form with onset in first months of life and variable severity. [MIM:618298]

Cytogenetic Location: 6p24.1, which is the short (p) arm of chromosome 6 at position 24.1

Molecular Location: base pairs 12,716,635 to 13,290,484 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 6p24.1, which is the short (p) arm of chromosome 6 at position 24.1
  • dJ257A7.2
  • EIEE70
  • RPEL
  • RPEL1