Focal segmental glomerulosclerosis (FSGS) is a histopathologic finding of scarring (sclerosis) of glomeruli and damage to renal podocytes. This process damages the filtration function of the kidney, resulting in protein presence in the urine due to protein loss. FSGS is a leading cause of excess protein loss—nephrotic syndrome—in children and adults. Signs and symptoms include proteinuria and edema. Kidney failure is a common long-term complication of the disease. FSGS can be classified as primary, secondary, or genetic, depending on whether a particular toxic or pathologic stressor or genetic predisposition can be identified as the cause. Diagnosis is established by renal biopsy, and treatment consists of glucocorticoids and other immune-modulatory drugs. Response to therapy is variable, with a significant portion of patients progressing to end-stage kidney failure. An American epidemiological study 20 years ago demonstrated that FSGS is estimated to occur in 7 persons per million, with males and African-Americans at higher risk.
Formins (formin homology proteins) are a group of proteins that are involved in the polymerization of actin and associate with the fast-growing end (barbed end) of actin filaments. Most formins are Rho-GTPase effector proteins. Formins regulate the actin and microtubule cytoskeleton and are involved in various cellular functions such as cell polarity, cytokinesis, cell migration and SRF transcriptional activity. Formins are multidomain proteins that interact with diverse signalling molecules and cytoskeletal proteins, although some formins have been assigned functions within the nucleus.
Actin-related protein 2 is a protein that in humans is encoded by the ACTR2 gene.
Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.
Formin-binding protein 1 is a protein that in humans is encoded by the FNBP1 gene.
FH1/FH2 domain-containing protein 1 is a protein that in humans is encoded by the FHOD1 gene.
F-actin-capping protein subunit alpha-1 is a protein that in humans is encoded by the CAPZA1 gene.
Synaptopodin is a protein that in humans is encoded by the SYNPO gene.
LIM domain and actin-binding protein 1 is a protein that in humans is encoded by the LIMA1 gene.
Actin-related protein 2/3 complex subunit 3 is a protein that in humans is encoded by the ARPC3 gene.
Actin-related protein 2/3 complex subunit 5 is a protein that in humans is encoded by the ARPC5 gene.
Macrophage-capping protein (CAPG) also known as actin regulatory protein CAP-G is a protein that in humans is encoded by the CAPG gene.
Trans-Golgi network integral membrane protein 2 is a protein that in humans is encoded by the TGOLN2 gene.
F-actin-capping protein subunit alpha-2 also known as CapZ-alpha2 is a protein that in humans is encoded by the CAPZA2 gene.
Actin-related protein 2/3 complex subunit 1A is a protein that in humans is encoded by the ARPC1A gene.
Kaptin is a protein that in humans is encoded by the KPTN gene.
Gamma-parvin is a protein that in humans is encoded by the PARVG gene.
Protein POF1B is a protein that in humans is encoded by the POF1B gene.
mDia1 is a member of the protein family called the formins and is a Rho effector. It is the mouse version of the diaphanous homolog 1 of Drosophila. mDia1 localizes to cells' mitotic spindle and midbody, plays a role in stress fiber and filopodia formation, phagocytosis, activation of serum response factor, formation of adherens junctions, and it can act as a transcription factor. mDia1 accelerates actin nucleation and elongation by interacting with barbed ends of actin filaments. The gene encoding mDia1 is located on Chromosome 18 of Mus musculus and named Diap1.
Formin-like protein 3 (FMNL3), also known as WW domain-binding protein 3 (WBP-3), is a protein that in humans is encoded by the FMNL3 gene.
