Automated description from the Alliance of Genome Resources (Release 5.3.0)
Enables hormone activity. Involved in several processes, including maintenance of protein location in extracellular region; negative regulation of cell differentiation; and positive regulation of appetite. Located in collagen-containing extracellular matrix and microfibril. Is active in extracellular space. Is expressed in several structures, including cardiovascular system; connective tissue; genitourinary system; musculoskeletal system; and respiratory system. 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). Orthologous to human FBN1 (fibrillin 1).