Article
Mutations in collagen 18A1 and their relevance to the human phenotype.
Anais da Academia Brasileira de Ciencias - 1 Mar 2006
Passos-Bueno Maria Rita, Suzuki Oscar T, Armelin-Correa Lucia M, Sertié Andréa L, Errera Flavia I V, Bagatini Kelly, Kok Fernando, Leite Katia R M
Abstract excerpt
Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause...
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