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

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables SMAD binding activity. Involved in several processes, including extracellular matrix organization; neurogenesis; and skeletal system development. Acts upstream of or within blood vessel development and cellular response to amino acid stimulus. Located in extracellular matrix. Part of collagen type III trimer. Is expressed in several structures, including central nervous system; embryo mesenchyme; exocrine system; genitourinary system; and heart and pericardium. Used to study systemic scleroderma and vascular type Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome; Ehlers-Danlos syndrome hypermobility type; end stage renal disease; and vascular type 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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