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.
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Protein Aliases: actinin-Alpha-4; Alpha-actinin-4; focal segmental glomerulosclerosis 1; Non-muscle alpha-actinin 4
Gene Aliases: ACTININ-4; ACTN4; FSGS; FSGS1
UniProt ID: (Human) O43707
Entrez Gene ID: (Human) 81