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Genes in the fibronectin type III domain containing family provide instructions for making proteins that contain a region made up of a similar sequence of protein building blocks (amino acids). The shared region (called a domain) resembles a region named the type III domain that was originally identified in a protein called fibronectin. The fibronectin type III domain (FN3 domain) is one of the most commonly occurring domains in proteins. The particular sequence of amino acids folds into a similar structure and allows for a similar function in the proteins that contain it. This domain allows proteins to attach (bind) to other proteins and other molecules.
Several different types of proteins contain the FN3 domain. Many are receptor proteins, which bind to other specific proteins, stimulating signals inside the cell that tell the cell how to function. For example, the erythropoietin receptor is involved in stimulating the formation and maturation of red blood cells. Other FN3 domain containing proteins are important for the strength or structure of cells and tissues. One such protein, called titin, attaches to other proteins in muscle cells, which stabilizes the structure that allows muscles to contract and relax. Another protein that contains the domain, the β4 subunit of integrin, helps cells attach to one another.
Because the proteins produced from genes in the fibronectin type III domain containing family have such a wide variety of functions, mutations in these genes have many different effects.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the fibronectin type III domain containing gene family: COL7A1, CRLF1, EPOR, FN1, IL2RG, IL7R, ITGB4, KAL1, L1CAM, MID1, MPL, MYBPC1, MYBPC3, ROBO3, TEK, TNXB, TTN, and USH2A.
Genetics Home Reference includes these conditions related to genes in the fibronectin type III domain containing gene family:
You may find the following resources about the fibronectin type III domain containing gene family helpful.
acids ; adhesion molecule ; autosomal ; autosomal recessive ; cardiac ; cell ; cell adhesion ; collagen ; cytokine ; domain ; kinase ; molecule ; muscle cells ; myosin ; oncogene ; protein ; proto-oncogene ; receptor ; recessive ; subunit ; syndrome ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the fibronectin type III domain containing gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.