FBN1

The FBN1 gene, located on chromosome 15, encodes a protein known as fibrillin-1. The FBN1 gene contains instructions for producing (encoding) a protein known as fibrillin-1. Fibrillin-1 is a component of structures called microfibrils, which are fiber-like structures that are part of the extracellular matrix, a complex material that surrounds and connects cells throughout the body. Researchers believe fibrillin-1 plays an essential role in maintaining the strength and structural integrity of the connective tissue. 

Associated Diseases

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with 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.

Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inherited from one parent is sufficient to have the condition.