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, Jul 2008]

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

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

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

Disease: Focal Segmental Glomerulosclerosis 1