Col6a1 - collagen, type VI, alpha 1

Predicted to enable collagen binding activity and platelet-derived growth factor binding activity. Acts upstream of or within cellular response to amino acid stimulus. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart and pericardium; and sensory organ. Used to study Bethlem myopathy and Ullrich congenital muscular dystrophy. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A1 (collagen type VI alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]