英文名稱： COL4A1 Antigen
相關(guān)類別： 抗原
儲 存： 冷凍（-20℃）
概 述
|
Full name |
collagen type IV alpha 1 chain |
|
Synonyms |
BSVD; RATOR |
|
Swissprot |
P02462 |
|
Gene Accession |
NP_001836 |
|
Background |
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. |
