Automated description from the Alliance of Genome Resources (Release 3.1.1)
Exhibits SMAD binding activity. Involved in several processes, including aorta smooth muscle tissue morphogenesis; collagen fibril organization; and nervous system development. Localizes to collagen type III trimer. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and heart and pericardium. 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 disease; and type III Ehlers-Danlos syndrome. Orthologous to human COL3A1 (collagen type III alpha 1 chain).