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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: actinin-Alpha-4; Alpha-actinin-4; focal segmental glomerulosclerosis 1; Non-muscle alpha-actinin 4
基因别名: ACTININ-4; ACTN4; FSGS; FSGS1
UniProt ID: (Human) O43707
Entrez Gene ID: (Human) 81