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Normal Function
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.
Health Conditions Related to Genetic Changes
Asphyxiating thoracic dystrophy
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.
More About This Health ConditionOther Names for This Gene
- ATD2
- IFT80_HUMAN
- intraflagellar transport 80 homolog (Chlamydomonas)
- KIAA1374
- MGC126543
- WD repeat domain 56
- WD repeat-containing protein 56
- WDR56
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29. Citation on PubMed
- Wang C, Yuan X, Yang S. IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways. Exp Cell Res. 2013 Mar 10;319(5):623-32. doi: 10.1016/j.yexcr.2012.12.028. Epub 2013 Jan 16. Citation on PubMed or Free article on PubMed Central
- Yang S, Wang C. The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis. Bone. 2012 Sep;51(3):407-17. doi: 10.1016/j.bone.2012.06.021. Epub 2012 Jul 4. Citation on PubMed or Free article on PubMed Central
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.