| Gene Symbol |
COL4A1
|
| Gene Synonyms |
BSVD BSVD1 RATOR PADMAL COL4A1s |
| Gene Full Name |
collagen type IV alpha 1 chain |
| Gene Summary |
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Molecular Weight(MW) |
200 kDa(Observed band size: kDa) |
| Function |
Collagen IV is a type of collagen protein that is a major component of the basement membrane in various tissues, including the kidneys, lungs, and skin. It forms a network-like structure that provides support and stability to the surrounding tissue. Collagen IV is composed of three alpha chains, which are encoded by the COL4A1, COL4A2, and COL4A3 genes. Mutations in these genes can lead to various genetic disorders, such as Alport syndrome and Goodpasture syndrome, which affect the kidneys and lungs, respectively. |
| Cellular Localization |
Basement membrane,Extracellular matrix,Secreted |