ACTN4

(redirected from focal segmental glomerulosclerosis 1)

ACTN4

A gene on chromosome 14q24.1 that encodes an actin-binding bundling protein expressed in various cells, playing different roles in each. In non-muscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane; skeletal, cardiac and smooth muscle isoforms are localised to the Z-disc and analogous dense bodies, where they help anchor myofibrillar actin filaments.

Molecular pathology
The non-muscle, alpha-actinin isoform of ACTN4 is concentrated in the cytoplasm, and may be involved in metastasis; ACTN4  mutations have been associated with focal and segmental glomerulosclerosis.
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