Website Search
ID 15955

What is Marfan syndrome?

Description:
Mutations in the FBN1 or fibrillin gene on chromosome 15 cause a genetic disorder called Marfan syndrome. The misshapen protein from the mutated gene weakens the tendons, ligaments and other connective tissues in the body.
Keywords:
tendons ligaments,chromosome 15,connective tissues,genetic disorder,mutations,protein
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

Related content:

15956. What causes Marfan syndrome?
Mutations in the FBN1 or fibrillin gene on chromosome 15 cause a genetic disorder called Marfan syndrome. The misshapen protein from the mutated gene weakens the tendons, ligaments and other connective tissues in the body.
15902. Marfan syndrome
Mutations in the FBN1 or fibrillin gene on chromosome 15 cause a genetic disorder called Marfan syndrome.
881. Hotspot for Autism Genes
Several lines of research are converging to show how opposing genetic pathways can lead to autism.
15941. What is cystic fibrosis?
The CFTR gene encodes a protein that transports sodium and chloride (salt) ions in the bo
15942. What causes cystic fibrosis?
The CFTR gene encodes a protein that transports sodium and chloride (salt) ions in the body
15906. Tay-Sachs
Mutations in the HEX A gene cause a disorder called Tay-Sachs, where a person's nerve cells deteriorate and finally die.
15969. What is Tay-Sachs?
Mutations in the HEX A gene cause a disorder called Tay-Sachs, where a person's nerve cells deteriorate and finally die. T
15970. What causes Tay-Sachs?
Mutations in the HEX A gene cause a disorder called Tay-Sachs, where a person's nerve cells deteriorate and finally die.
1837. TJP1/A0086
Tight junction protein 1 (TJP1, also known as A0086), is a 200 kDa protein found at cytoplasmic membranes co-located with intercellular tight junctions.
15959. What is Neurofibromatosis 1?
NF1 is a large gene that encodes three slightly different neurofibromin proteins, found in nerve and muscle tissue
Cold Spring Harbor Laboratory
CSHL HomeAbout CSHLResearchEducationPublic EventsNewsstandPartner With UsGiving