FLNC
FLNC: An Essential Cytoskeletal Protein with Diverse Roles
Description
FLNC (filamin C) is a ubiquitously expressed, actin-binding protein that plays a fundamental role in organizing the cytoskeleton. It consists of an N-terminal actin-binding domain, 24 Ig-like domains (immunoglobulin-like), and a C-terminal dimerization domain.
FLNC undergoes dimerization to form a coiled-coil structure that interacts with numerous cytoplasmic and membrane proteins. Its primary function is to crosslink actin filaments, thereby stabilizing the cytoskeletal network and regulating cell shape, motility, and adhesion.
Associated Diseases
Mutations or dysregulation of FLNC have been linked to several diseases, including:
- Myofibrillar Myopathy (MFM): A progressive muscle disease characterized by muscle weakness, wasting, and impaired mobility.
- Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A rare congenital disorder affecting the urinary and digestive systems, leading to urinary retention and intestinal problems.
- Syndromic Intellectual Disability: A group of genetic conditions associated with intellectual disability and characteristic facial features.
- Cancer: FLNC has been implicated in promoting cancer cell migration, invasion, and metastasis.
Did you Know ?
According to a study published in 2021, approximately 1 in 100,000 individuals worldwide are affected by MFM, the most common disease associated with FLNC mutations.
