This gene encodes a member of the intermediate filament family. Intermediate filamentents, along with microtubules and actin microfilaments, make up the cytoskeleton. The protein encoded by this gene is responsible for maintaining cell shape, integrity of the cytoplasm, and stabilizing cytoskeletal interactions. It is also involved in the immune response, and controls the transport of low-density lipoprotein (LDL)-derived cholesterol from a lysosome to the site of esterification. It functions as an organizer of a number of critical proteins involved in attachment, migration, and cell signaling. Mutations in this gene causes a dominant, pulverulent cataract.
Vimentin is a type III intermediate filament (IF) protein found in various non-epithelial cells, especially mesenchymal cells. A vimentin monomer, has a central α-helical domain and carboxyl (tail) domains. Two monomers compose the basic subunit of vimentin assembly. Vimentin is crucial for supporting and anchoring the position of the organelles in the cytosol. Vimentin provided cells with a resilience absent from the microtubule or actin filament networks, when under mechanical stress in vivo. Therefore, in general, it is accepted that vimentin is the cytoskeletal component responsible for maintaining cell integrity. Vimentin is also responsible for stabilizing cytoskeletal interactions. It is found that vimentin control the transport of low-density lipoprotein. It has been used as a sarcoma tumor marker to identify mesenchyme.
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined.
Vinculin belongs to the vinculin/alpha-catenin family. It is an actin filament (F-actin)-binding protein which involved in cell-matrix adhesion and cell-cell adhesion. Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions. Vinculin regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. It plays an important role in cell morphology and locomotion.
VSIR (V-Set Immunoregulatory Receptor) is a Protein Coding gene. Diseases associated with VSIR include Ichthyosis, Congenital, Autosomal Recessive 6 and Monckeberg Arteriosclerosis. Among its related pathways are Cell adhesion molecules (CAMs) and NF-kappaB Signaling. An important paralog of this gene is VSIG8.
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