COL4A1 is a gene that codes for the production of the protein collagen type IV. Collagen type IV is an important component of the basement membrane, a structure that supports and separates various tissues in the body, such as blood vessels, kidneys and the eyes. Mutations in the COL4A1 gene can cause a number of diseases and conditions because collagen type IV does not function properly in the affected tissues.

One of the most common effects of COL4A1 mutations is hereditary nephropathies, in which the kidneys are affected by damage to the basement membranes. Blood clotting disorders can also occur, leading to an increased risk of bleeding or the formation of blood clots. In addition, mutations in the COL4A1 gene can cause neurological disorders, such as strokes, cerebral hemorrhages or other problems in the central nervous system. In some cases, the eyes are also affected, as collagen type IV plays an important role in the retina. This can lead to impaired vision or other eye diseases.

The exact manifestation and severity of symptoms depends on the type of mutation and the tissue structure affected. If COL4A1 is affected, this can lead to a variety of health problems that vary depending on the organ and system affected.