Automated description from the Alliance of Genome Resources (Release 3.0)
Predicted to have several functions, including heparin binding activity; identical protein binding activity; and signaling receptor binding activity. Involved in negative regulation of osteoclast development; sequestering of BMP in extracellular matrix; and sequestering of TGFbeta in extracellular matrix. Localizes to collagen-containing extracellular matrix and microfibril. Used to study Marfan syndrome; Weill-Marchesani syndrome; heart disease; pulmonary emphysema; and systemic scleroderma. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Is expressed in several structures, including cardiovascular system; connective tissue; genitourinary system; musculoskeletal system; and respiratory system. Orthologous to human FBN1 (fibrillin 1).