Automated description from the Alliance of Genome Resources (Release 7.4.0)
Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix; extracellular space; and sarcolemma. Part of collagen trimer. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart and pericardium; and musculoskeletal system. Used to study Ullrich congenital muscular dystrophy and congenital muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).
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