FBN1

The FBN1 gene, located on chromosome 15, encodes a protein known as fibrillin-1.

Associated Diseases

Marfan Syndrome

Did you know

Marfan syndrome is a genetic condition caused by mutations in the FBN1 gene.

Fibrillin-1 forms elastic fibers within connective tissue, supporting bones, muscles, and organs.

In Marfan syndrome, these mutations lead to abnormalities in connective tissue, affecting various body systems