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The official name of this gene is “intraflagellar transport 80.”
IFT80 is the gene's official symbol. The IFT80 gene is also known by other names, listed below.
The IFT80 gene provides instructions for making a protein that is part of a group (complex) called IFT complex B. This complex is found in cell structures known as cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. IFT complex B is involved in a process called intraflagellar transport (IFT), by which materials are carried within cilia. Specifically, this complex helps transport materials from the base of cilia to the tip.
IFT is essential for the assembly and maintenance of cilia. These cell structures play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.
The IFT80 gene belongs to a family of genes called IFT (intraflagellar transport homologs). It also belongs to a family of genes called WDR (WD repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
Mutations in the IFT80 gene were the first genetic changes found to cause asphyxiating thoracic dystrophy, an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. At least six mutations in the IFT80 gene have since been associated with this disorder. Most of these mutations change single protein building blocks (amino acids) in the IFT80 protein. IFT complex B made with the altered protein cannot function normally, which disrupts the transport of materials within cilia. Researchers speculate that these changes in IFT alter certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy.
In some affected individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. However, when the disorder results from IFT80 gene mutations, its features are usually limited to problems with bone growth. The reasons for this difference are unknown.
Cytogenetic Location: 3q25.33
Molecular Location on chromosome 3: base pairs 160,256,986 to 160,399,532
The IFT80 gene is located on the long (q) arm of chromosome 3 at position 25.33.
More precisely, the IFT80 gene is located from base pair 160,256,986 to base pair 160,399,532 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about IFT80 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; cartilage ; cell ; differentiation ; domain ; gene ; inherited ; osteoblast ; proliferation ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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.