Actinin, Alpha 4 (ACTN4) Antibody – Rabbit Polyclonal

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq]

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: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 19q13

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

Molecular Function: integrin binding; actin filament 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; actin filament bundle formation; platelet activation; 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