COL4A3

COL4A3, or Collagen type IV alpha 3 chain, is a subtype of collagen type IV and belongs to the collagen family. The COL4A3 gene is located on human chromosome 2q36-q37, contains 52 exons, and encodes a product of 8,114 bp mRNA and a protein of 162,000 molecular weight.
The distribution of COL4A3 is restricted to tissue-specific basement membranes, such as the glomerular basement membrane, cochlear basement membrane, anterior lens capsule eye basement membrane, Descemet's membrane, and the basement membranes of the ovary and testis, as well as the alveolar capillary basement membrane. COL4A3 plays a role in cell adhesion functions and is involved in the invasion and metastasis of various tumors, including breast, stomach, and lung cancers. In kidney diseases, mutations in the COL4A3 gene are associated with Alport syndrome, characterized by hereditary nephritis and hearing loss. COL4A3 is also related to benign familial hematuria and end-stage renal disease.