Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources

Exhibits SMAD binding activity. Involved in several processes, including aorta smooth muscle tissue morphogenesis; collagen fibril organization; and nervous system development. Localizes to the collagen type III trimer. Used to study autosomal dominant type IV Ehlers-Danlos syndrome and systemic scleroderma. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; autosomal dominant type IV Ehlers-Danlos syndrome; end stage renal failure; and type III Ehlers-Danlos syndrome. Orthologous to human COL3A1 (collagen type III alpha 1 chain).

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Gene Ontology Evidence Code Abbreviations:

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