FBN3
FBN3
A gene on chromosome 19p13 that encodes fibrillin 3, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly. FBN3 is highly expressed in foetal tissues; its protein product is localised to extracellular microfibrils of developing skin, lung, kidney and skeletal muscle.Molecular pathology
FBN3 mutations may cause Weill-Marchesani syndrome.