Fbn1 - fibrillin 1 Gene

Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and signaling receptor binding activity. Predicted to be an extracellular matrix structural constituent. Involved in cellular response to insulin-like growth factor stimulus; cellular response to transforming growth factor beta stimulus; and metanephros development. Located in collagen-containing extracellular matrix and extracellular region. Biomarker of glomerulonephritis; hypertension; liver cirrhosis; mesangial proliferative glomerulonephritis; and type 2 diabetes mellitus. 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). [provided by Alliance of Genome Resources, Apr 2022]