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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]
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FBN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
TB domain
EGF domain
Fibrillin 1 unique N-terminal domain
Coagulation Factor Xa inhibitory site
EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
Extracellular Space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FBN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
anatomical structure morphogenesis
Cellular Component
Where in the cell the gene product is active
microfibril
extracellular matrix
extracellular region
Molecular Function
What the gene product does at the molecular level
calcium ion binding
extracellular matrix structural constituent
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