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The I-set domain containing gene family is a subset of the immunoglobulin superfamily. Genes in the immunoglobulin superfamily provide instructions for making proteins that have a certain region called an immunoglobulin-like (Ig-like) domain. The domain is described as Ig-like because it resembles regions found in molecules called antibodies (also known as immunoglobulins). Antibodies are specialized proteins that attach (bind) to foreign invaders, such as bacteria and viruses, as part of the body's immune response.
Antibodies contain a variable (V) region and a constant (C) region. Ig-like domains can resemble either the variable region or the constant region; these domains are described as V-set and C-set, respectively. Some Ig-like domains have characteristics of both the variable and constant regions; these domains are described as I-set, meaning intermediate. Proteins that contain an I-set Ig-like domain are produced from I-set domain containing genes in this family.
Much like the role of antibodies to recognize and bind particular substances, the Ig-like domain allows proteins to interact with other molecules. Many I-set domain containing proteins act as receptors that bind proteins called growth factors, stimulating signaling inside the cell that helps the cell respond to its environment. Other proteins with this domain are found in muscle cells; their ability to bind other muscle proteins aid in muscle tensing (contraction). Still other I-set domain containing proteins play a role in the process by which cells attach to one another (cell adhesion). Because the proteins produced from genes in the I-set domain containing family have such diverse functions, changes in these genes can cause a variety of disorders that affect different body systems.
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 immunoglobulin superfamily, I-set domain containing gene family: FGFR1, FGFR2, FGFR3, FGFR4, FLT4, L1CAM, MYBPC1, MYBPC3, MYOT, PDGFRA, PDGFRB, ROBO3, ROR2, and TTN.
Genetics Home Reference includes these conditions related to genes in the immunoglobulin superfamily, I-set domain containing gene family:
adhesion molecule ; bacteria ; cardiac ; cell ; cell adhesion ; contraction ; domain ; fibroblast ; gene ; growth factor ; immune response ; immunoglobulin ; kinase ; molecule ; muscle cells ; myosin ; protein ; receptor ; 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 immunoglobulin superfamily, I-set 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.