COL4A5

About COL4A5

COL4A5 on chromosome Xq22.3 encodes the alpha 5 chain of type IV collagen, which assembles with alpha 3 and alpha 4 chains into a specialized collagen network in the basement membranes of the kidney glomerulus, the inner ear, and the eye. Variants in COL4A5 cause X linked Alport syndrome, the most common form of the disorder, while variants in COL4A3 and COL4A4 on chromosome 2 cause autosomal forms. Affected males typically develop blood in the urine in childhood, progressive kidney disease that often leads to kidney failure in early adulthood, sensorineural hearing loss, and characteristic eye changes such as anterior lenticonus. Women with one variant have a wide range of outcomes, from blood in the urine alone to kidney failure. The condition is named after the South African physician Arthur Cecil Alport, who described a British family in 1927.