Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 20 for FBN1
  1. FBN1 gene 
    The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  2. FBN2 gene 
    ... provides instructions for making a large protein called fibrillin-2. This protein is transported out of cells ... in the spaces between cells. In this matrix, fibrillin-2 binds to other proteins to form threadlike ...
    https://medlineplus.gov/genetics/gene/fbn2 - Genetics
  3. Marfan syndrome 
    ... 1 in 5,000 worldwide. Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin- ...
    https://medlineplus.gov/genetics/condition/marfan-syndrome - Genetics
  4. Weill-Marchesani syndrome 
    ... 100,000 people. Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 ... of Weill-Marchesani syndrome.A mutation in the FBN1 gene has also been found to cause Weill- ...
    https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome - Genetics
  5. Acromicric dysplasia 
    ... Acromicric dysplasia is caused by mutations in the FBN1 gene, which provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics
  6. ADAMTSL4 gene 
    ... ADAMTSL4 protein attaches (binds) to another protein called fibrillin-1. Fibrillin-1 proteins bind to each other and other ... is likely that the binding of ADAMTSL4 to fibrillin-1 promotes microfibril assembly. Microfibrils provide support to ...
    https://medlineplus.gov/genetics/gene/adamtsl4 - Genetics
  7. Isolated ectopia lentis 
    ... about 75 percent) are syndromic. Mutations in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. These ... in position by these filaments.Mutations in the FBN1 or ADAMTSL4 gene impair protein function and lead ...
    https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis - Genetics
  8. Congenital contractural arachnodactyly 
    ... The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to ... body.Mutations in the FBN2 gene can decrease fibrillin-2 production or result in the production of ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  9. Marfan syndrome 
    ... is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building ... problems The following tests may be performed: Echocardiogram Fibrillin-1 mutation testing (in some people) An echocardiogram ...
    https://medlineplus.gov/ency/article/000418.htm - Medical Encyclopedia
  10. Learning about Marfan Syndrome From the National Institutes of Health (National Human Genome Research Institute)  
    Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals. ... Marfan Syndrome/Start Here ... Marfan Syndrome
    https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome - External Health Links
previous · 1 · 2 · next