ACTN4

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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 ?
Global Focal Segmental Glomerulosclerosis (FSGS) Market, by Disease Management
Since its inception, FSG has won more than $112 million in grants for its work, two-thirds of it from USAID, the worlds premier international development agency.
The most frequent findings in HIV-positive individuals with nephrotic-range proteinuria were HIVAN (27.3%, n=39), FSGS (17.5%, n=25) and MGN (15.4%, n=22), compared with FSGS (19.5%, n=89), MGN (19.5%, n=89) and LN (17.1%, n=78) in HIV-negative individuals.
FSGS (focal segmental glomerulosclerosis) is a rare kidney disorder and histopathologic diagnosis characterized by scarring of the kidney's filtering units, or glomeruli, leading to proteinuria, an excess of essential proteins spilling into the urine.
Mounting evidence has shown that podocyte apoptosis is one of the most significant mechanisms in the pathogenesis of many kidney diseases, including FSGS,[2] diabetic nephropathy,[3],[4] and chronic kidney diseases.[5] To date, 39 dominant and recessive genes have been discovered in patients with SRNS.[6] All of the known monogenic mutations that cause NS exist in podocyte-specific genes, suggesting that podocytes are significant for normal GFB function.[7]
Solitary kidney post nephrectomy, has been the most frequent and common causes of secondary FSGS, and adaptive response occurred in such cases because of reduced renal mass leading to compensatory intraglomerular hypertension and hypertrophy in the remaining glomeruli7, ultimately leading to FSGS over a period of years and this effect is dose dependent with greater risk of developing proteinuria, glomerulosclerosis and progressive renal failure in those patients who lost greater than 75% of renal mass8.
[18] Leakage and increased expression of this urinary protein serves as an important biomarker of FSGS.
Maddy's dad donated one of his kidneys to her, but her FSGS then returned after the transplant.
Focal and segmental glomerulosclerosis (FSGS) is the most common histological finding on renal biopsy.
and management of focal segmental glomerulosclerosis (FSGS), and
A 21-year-old man with a history of ESRD secondary to FSGS, placement of a temporary right subclavian catheter, and renovascular hypertension presented to the emergency department with fevers and myalgia.
In this study, membranoproliferative GN (MPGN) was the most common histopathological pattern of glomerular disease that was reported in 25% of the patients, and the second most common type was focal segmental glomerulosclerosis (FSGS) that was reported in 22% of the patients [10].