COL4A4 : collagen type IV alpha 4 chain

Understanding the COL4A4 Gene: A Key Player in Basement Membrane Formation

Description:

The COL4A4 gene provides the genetic blueprint for creating the alpha4(IV) chain of collagen IV, a crucial protein found in basement membranes. Basement membranes are thin, sheet-like structures that separate and provide support to cells in various tissues throughout the body. Specifically, the alpha345(IV) collagen, formed by the combination of alpha3, alpha4, and alpha5 chains, plays a significant role in the basement membranes of the kidney, inner ear, and eye.

Associated Diseases:

Mutations in the COL4A4 gene can lead to several inherited disorders that affect the structure and function of basement membranes. These disorders include:

• Alport syndrome: A genetic condition characterized by progressive kidney failure, hearing loss, and eye abnormalities.
• Thin basement membrane nephropathy: A rare kidney disease caused by defects in collagen IV production, leading to proteinuria and kidney failure.
• Type III autosomal recessive familial intrahepatic cholestasis: A severe liver disease in infants.

Did you Know ?

Approximately 1 in 50,000 people worldwide are affected by Alport syndrome, the most common condition associated with COL4A4 mutations.