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Q: What does a diffective fibrillin protein cause?
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What type of chemical is fibrillin?

Protein


What is the abnormal protein in Marfan's syndrome?

connective tissue protein fibrillin-1.


What is a Marfan Syndrome?

marfan syndrome is genetic disorder of connective tissue of the body. it cause a mutation of the gene that produces the protein fibrillin.


What is fibrillin?

Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.[1] Fibrillin-1 is a major component of the microfibrils that form a sheath surrounding the amorphous elastin. It is believed that the microfibrils are composed of end-to-end polymers of fibrillin. To date, 3 forms of fibrillin have been described. The fibrillin-1 protein was isolated by Sakai in 1986,[2] and mutations in the gene have been linked to the Marfan syndrome. At present more than 100 different mutations have been described. Fibrillin-2 was isolated in 1994 by Zhang[3] and is thought to play a role in early elastogenesis. Mutations in the fibrillin-2 gene have been linked to Beal's Syndrome. More recently, fibrillin-3 was described and is believed to be located mainly in the brain.[4] Along with in the brain, fibrillin 1 has been localized in the gonads and ovaries of field mice.


What effect does Marfan syndrome have on the body?

It affects the body's production of fibrillin, which is a protein that is an important part of connective tissue.


Does marfan syndrome affect the aorta?

Yes. Marfan syndrome is a congenital disorder affecting the formation of fibrillin. In Marfan syndrome, the abnormal fibrillin is responsible for many of the findings of the disease. Hyperextensibility/hyperelasticity of joints is one of the hallmark signs. Pectus excavatum is another. People with Marfan syndrome are typically very tall and thin, with very long fingers and toes (arachnodactyly). The fibrillin defect also affects the blood vessels, especially the large arteries, such as the aorta. Disordered fibrillin production causes these arteries to be weaker than normal, predisposing patients with Marfan syndrome to aortic dissections and rupture. This the major cause of death for patients with Marfan syndrome.


What chromosome is gene located for marfan syndrome?

FBN1 or Fibrillin 1


Can herpes cause high protein in blood?

Herpes does not cause high protein in the blood.


What is the name of the disease caused by not eating enough protein?

A lack of protein does not cause an eating disorder. Instead, that can cause anemia.


Is protein a mineral?

Is Mineral A Protein would be a real question cause MINERALS ARE A PROTEIN!


How does Marfan syndrome cause aortic enlargement?

Because of the abnormalities of the patient's fibrillin, the walls of the aorta (the large blood vessel that carries blood away from the heart) are weaker than normal and tend to stretch and bulge out of shape.


What happens if you consume too much or too little protein?

too much protein can cause strain on the kidneys too much protein can cause strain on the kidneys