Automated description from the Alliance of Genome Resources (Release 7.5.0)
Enables SMAD binding activity. Involved in collagen fibril organization and skin development. Acts upstream of or within cellular response to amino acid stimulus and skeletal system development. Located in collagen-containing extracellular matrix and extracellular space. Part of collagen trimer. Is expressed in several structures, including connective tissue; embryo mesenchyme; genitourinary system; intraembryonic coelom; and musculoskeletal system. Used to study Ehlers-Danlos syndrome classic type 1. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 2. Orthologous to human COL5A2 (collagen type V alpha 2 chain).
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