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 ?
Further studies should be made to illuminate the relationship between ACTN4, MYBL2, and tumor progression.
Considering that ACTN4 played important roles in promoting tumor cell proliferation, the direct interaction relationship awaits further investigation.
The most common cause of the autosomal dominant FSGS is the INF2 gene mutations (16%), followed by mutations in the TRPC6 (12%) and the ACTN4 (3.
32) The remaining proteins, specifically TPM1, ACTB, ACTN4, LMNA, and TUBB, are important elements in the formation of the cytoskeleton itself.
Mutational analysis of seven podocyte genes (NPHS1, NPHS2, WT1, CD2AP, ACTN4, TRPC6 and PLCE1) in 19 non-familial childhood-onset, steroid resistant, biopsy-proven FSGS patients revealed variants of NPHS1, NPHS2, WT1 and CD2AP that could be the cause of the disease in four subjects (21%).
There have been several reports on this disease in family groups, and mutations in the CoQ2 and ACTN4 genes were found to be responsible (2.
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.
Another mutation in the gene ACTN4 that codes for a-actinin-4 has also been identified in some cases of an autosomal dominant form of the disease.
7 Several other genes, including WT1, TRPC6, and ACTN4, have been implicated in the causation of NS in children and adolescents.
38) Interestingly, mutation of ACTN4 appears to induce disease relatively late in life.
5 WT3 * 16q WT4, FWT1 * 17q12-q21 GPC3 Xq26 Von Hippel-Lindau VHL 3p26-p25 syndrome Multifactorial Disorders Focal segmental ACTN4, FSGS1, FSGS 19q13 glomerulosclerosis FSGS2 11q21-q22 CD2AP, CMS 6p12 Systemic lupus SLEB1, SLE1 1q41-q42 erythematosis TNFSF6, APT1LG1, FASL 1q23 FCGR3A, CD16, IGFR3 1q23 SLEH1 11q14 SLEB3 4p16-pl5.