| Gene Symbol | COL4A1 |
| Entrez Gene ID | 1282 |
| Full Name | collagen type IV alpha 1 chain |
| Synonyms | BSVD,RATOR |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | Porencephaly 1, 175780 (3); Brain small vessel disease with or without ocular anomalies, 607595 (3); Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3); {Hemorrhage, intracerebral, susceptibility to}, 614519 (3); ?Retinal arteries, tortuosity of, 180000 (3); Schizencephaly, 269160 (3) |
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