ACTN4 Antibody – Mouse Monoclonal

ACTN4: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Defects in ACTN4 are the cause of focal segmental glomerulosclerosis type 1 (FSGS1). A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Belongs to the alpha-actinin family.

Protein type: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 19q13

Cellular Component: cortical cytoskeleton; extracellular space; neuron projection; focal adhesion; protein complex; perinuclear region of cytoplasm; cytoplasm; stress fiber; extracellular region; intercellular junction; pseudopodium; Z disc; ribonucleoprotein complex; nucleus

Molecular Function: actin filament binding; integrin binding; protein binding; protein homodimerization activity; ligand-dependent nuclear receptor transcription coactivator activity; retinoic acid receptor binding; nucleoside binding; protein N-terminus binding; calcium ion binding; actin binding; nuclear hormone receptor binding

Biological Process: regulation of apoptosis; retinoic acid receptor signaling pathway; platelet activation; actin filament bundle formation; protein transport; platelet degranulation; response to hypoxia; negative regulation of cell motility; positive regulation of cell motility; positive regulation of sodium:hydrogen antiporter activity; positive regulation of pinocytosis; blood coagulation

Disease: Focal Segmental Glomerulosclerosis 1