Mutant-type alpha5(IV) collagen in a mild form of Alport syndrome has residual ability to form a heterotrimer.

Abstract excerpt

Alport syndrome (AS) is caused by mutations in type IV collagen alpha3, alpha4, and alpha5 chains. The three chains form a heterotrimer. We have previously shown that all 15 types of recombinant alpha5(IV) chains with mutations, corresponding to AS mutations, in the noncollagenous (NC1) domain are defective in terms of heterotrimer formation and/or secretion of the heterotrimer from cells. A relatively large...

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