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COL4A1 / Collagen IV Alpha1 is 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.
Gene Name: | collagen, type IV, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL4A1, Arresten, COL4A1 NC1 domain, Collagen alpha-1(IV) chain, Collagen, type IV, alpha 1, HANAC, ICH, POREN1 |
Target Sequences: | NM_001845 NP_001836.3 P02462 |
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