COL4A6
Collagen Type IV Alpha 6 (COL4A6): A Vital Protein for Tissue Support and Disease Susceptibility
Introduction
Collagen type IV alpha 6 (COL4A6) is a crucial protein component of the extracellular matrix (ECM), the scaffolding that surrounds and supports cells. It plays a vital role in maintaining tissue integrity, providing structural stability and elasticity to basement membranes, which separate epithelial cells from underlying connective tissue.
Structure and Function
COL4A6 is a non-collagenous protein that forms a heterotrimer with two other collagen alpha chains, COL4A5 and COL4A6. Together, these three chains form the primary structural components of basement membranes. The COL4A6 chain is characterized by a unique amino acid sequence and specific binding sites for other ECM components, such as laminin and nidogen.
Associated Diseases
Mutations or defects in the COL4A6 gene can lead to several inherited diseases that affect the structure and function of basement membranes. These include:
- Alport Syndrome: A genetic condition characterized by kidney failure, hearing loss, and eye abnormalities.
- Thin Basement Membrane Nephropathy (TBMN): A kidney disorder resulting in proteinuria and progressive kidney failure.
- Hereditary Nephritis: A type of kidney inflammation caused by mutations in COL4A6.
- Focal Segmental Glomerulosclerosis (FSGS): A kidney scarring disease that can lead to kidney failure.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by Alport Syndrome, making it one of the most common inherited kidney diseases.
