External Ids for FBN3 Gene
Previous GeneCards Identifiers for FBN3 Gene
This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
GeneCards Summary for FBN3 Gene
FBN3 (Fibrillin 3) is a Protein Coding gene. Diseases associated with FBN3 include Weill-Marchesani Syndrome and Weill-Marchesani Syndrome 1, Recessive. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is FBN2.
UniProtKB/Swiss-Prot for FBN3 Gene
Fibrillin-3: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support.