Aliases for FRMD4A Gene
External Ids for FRMD4A Gene
Previous HGNC Symbols for FRMD4A Gene
Previous GeneCards Identifiers for FRMD4A Gene
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for FRMD4A Gene
FRMD4A (FERM Domain Containing 4A) is a Protein Coding gene. Diseases associated with FRMD4A include Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia and Arrhythmogenic Right Ventricular Dysplasia, Familial, 13. Gene Ontology (GO) annotations related to this gene include protein binding, bridging. An important paralog of this gene is FRMD4B.
UniProtKB/Swiss-Prot Summary for FRMD4A Gene
Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).