anticorps col4a1, anticorps wu:fc02g11, anticorps HANAC, anticorps ICH, anticorps POREN1, anticorps arresten, anticorps Bru, anticorps Col4a-1, anticorps Del(8)44H, anticorps Raw, anticorps Svc, anticorps collagen, type IV, alpha 5 (Alport syndrome), anticorps collagen type IV alpha 1 chain, anticorps collagen, type IV, alpha 1, anticorps col4a5, anticorps COL4A1, anticorps Col4a1
Sujet
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.,COL4A1,BSVD,RATOR,Stem Cells,COL4A1