Predicted to enable calcium ion binding activity. Predicted to be located in extracellular region and microfibril. 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).
XBXT Description
Fibrillins and related proteins containing Ca2+-binding EGF-like domains