Protein Name actinin alpha 4
Organism Homo sapiens
Gene ID 81
Gene Symbol

ACTN4

UniProt O43707 (ACTN4_HUMAN), F5GXS2 (F5GXS2_HUMAN), H7C144 (H7C144_HUMAN), A0A0S2Z3G9 (A0A0S2Z3G9_HUMAN)
Relationships Total Number of functionally related compound(s) : 119
Total Number of Articles : 237
Description

actinin alpha 4

Gene Summary

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]

synonyms
  • alpha-actinin-4
  • focal segmental glomerulosclerosis 1
  • non-muscle alpha-actinin 4
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Properties