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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
COL4A1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
COL4A1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
COL4A1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
COL4A1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
COL4A1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : COL4A1
Gene Name : Collagen type IV alpha 1 chain
Chromosome : CHR 13: 110,307,156-110,148,957
Locus : 13q34
Alt. Genes : RAD50
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