COL4A1 (collagen type IV α 1 chain) belongs to the collagen family. It has an N-terminal 7S domain, a C-terminal globular domain (NC1), and the central triple helical part with short interruptions of the Gly-X-Y repeats . It is an important constituent of type IV collagen in the basement membrane . The COL4A1 gene is located on human chromosome 13q34 .
Collagen IV, derived from human fibroblasts and epithelial cells in a co-culture system, creates an in vitro ECM (extracellular matrix) and serves as an excellent biological scaffold for three dimensional cell culture.
Collagen IV is a heterotrimeric molecules containing two α1-like and one α2-like chain. It is considered essential for completion of embryogenesis and is necessary for proper tissue organization and structural integrity. It is used in vitro as a substrate to enhance adherence and proliferation of many cell types. Produced by human fibroblasts and epithelial cells, Collagen IV is then purified biochemically and provided as a sterile solution at a concentration of 0.3mg/ml in 25% acetic acid.
COL4A1 (collagen type IV α 1 chain) related disorder is associated with pulmonary complication. This gene is a major constituent required in basal membrane stability. Mutations in COL4A1 result in familial porencephaly, infantile hemiplegia, cerebral small vessel disease (CSVD) and hemorrhagic stroke.