Flna - filamin, alpha

Enables potassium channel regulator activity and protein kinase C binding activity. Involved in several processes, including circulatory system development; regulation of ion transmembrane transport; and regulation of neuron projection development. Acts upstream of or within actin cytoskeleton organization; early endosome to late endosome transport; and epithelial to mesenchymal transition. Located in several cellular components, including Z disc; axonal growth cone; and trans-Golgi network. Is expressed in several structures, including bone; brain; great vessel of heart; gut; and heart. Used to study periventricular nodular heterotopia. Human ortholog(s) of this gene implicated in X-linked recessive disease (multiple); bone development disease (multiple); heart valve disease (multiple); periventricular nodular heterotopia; and terminal osseous dysplasia. Orthologous to human FLNA (filamin A). [provided by Alliance of Genome Resources, Apr 2022]