COL4A3BP
COL4A3BP: A Protein with Critical Roles in Health and Disease
Description
COL4A3BP, also known as collagen type IV alpha 3 binding protein, is a protein that plays a vital role in the formation and maintenance of the extracellular matrix (ECM). The ECM is a complex network of proteins and molecules that provides structural support to cells and tissues.
COL4A3BP specifically binds to collagen type IV, one of the main components of the ECM. This binding helps stabilize the collagen network and provides structural integrity to tissues. Additionally, COL4A3BP is involved in cell adhesion, migration, and differentiation.
Associated Diseases
Mutations in the COL4A3BP gene have been linked to several inherited disorders, including:
- Alport syndrome: A rare kidney disease characterized by progressive hearing loss and kidney failure.
- Thin basement membrane nephropathy (TBMN): A less severe kidney disease that can lead to proteinuria (excessive protein in the urine) and kidney failure.
- Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP): A skin disorder that causes blisters and scarring.
- Hereditary angioedema: A condition characterized by recurrent episodes of swelling in the face, limbs, and abdomen.
Did you Know ?
Approximately 1 in 50,000 people are affected by Alport syndrome, the most common disorder associated with COL4A3BP mutations.
