PHACTR1

Chr 6AD

phosphatase and actin regulator 1

Also known as: DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2

NCBI Gene: 221692 ENSG00000112137 UniProt: Q9C0D0 OMIM: 608723

The protein binds actin monomers and regulates actin cytoskeleton dynamics, cell motility, endothelial cell survival, and cortical neuron migration and dendrite arborization. Mutations cause developmental and epileptic encephalopathy 70, inherited in an autosomal dominant pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 70MIM #618298

Clinical highlights

Interpreting a novel variant

A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.92

LOEUF

Mechanism· G2P

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GeneReview available — PHACTR1

Authoritative clinical overview · Recommended first read