ACTN4

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.
References in periodicals archive ?
Genetic factors associated with FSGS include HLA DR4, a mutation of NPHS2 which codes for podocin and a mutation of ACTN4 which codes for actinin, a structural protein found in the podocyte.
38) Interestingly, mutation of ACTN4 appears to induce disease relatively late in life.
Mutations in ACTN4, encoding alphaactinin4, cause familial focal segmental glomerulosclerosis.