FBN1
Encyclopedia
Fibrillin-1 is a protein
that in humans is encoded by the FBN1 gene
.
This gene encodes a member of the fibrillin
family. The encoded protein is a large, extracellular matrix glycoprotein
that serve as a structural component of 10-12 nm calcium-binding microfibril
s. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome
, isolated ectopia lentis
, autosomal dominant Weill-Marchesani syndrome
, MASS syndrome, and Shprintzen-Goldberg craniosynostosis
syndrome.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the FBN1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
This gene encodes a member of the fibrillin
Fibrillin
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue.Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffoldfor deposition of elastin.It...
family. The encoded protein is a large, extracellular matrix glycoprotein
Glycoprotein
Glycoproteins are proteins that contain oligosaccharide chains covalently attached to polypeptide side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. In proteins that have segments extending...
that serve as a structural component of 10-12 nm calcium-binding microfibril
Microfibril
The microfibril is a very fine fibril, or fiber-like strand, consisting of glycoproteins and cellulose. It is usually, but not always, used as a general term in describing the structure of protein fiber, examples are hair and sperm tail. Its most frequently observed structural pattern is 9+2...
s. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome
Marfan syndrome
Marfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
, isolated ectopia lentis
Ectopia lentis
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or luxated lens.-Ectopia lentis in dogs and cats:Although...
, autosomal dominant Weill-Marchesani syndrome
Weill-Marchesani syndrome
Weill-Marchesani syndrome is a rare, genetic disorder characterized by short stature; an unusually short, broad head and other facial abnormalities; hand defects, including unusually short fingers ; and distinctive eye...
, MASS syndrome, and Shprintzen-Goldberg craniosynostosis
Craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by ossification, thereby changing the growth pattern of the skull...
syndrome.