Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed May 2015

What is the official name of the IFT80 gene?

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.

What is the normal function of the IFT80 gene?

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.

Does the IFT80 gene share characteristics with other genes?

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? ( in the Handbook.

How are changes in the IFT80 gene related to health conditions?

asphyxiating thoracic dystrophy - caused by mutations in the IFT80 gene

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.

Where is the IFT80 gene located?

Cytogenetic Location: 3q25.33

Molecular Location on chromosome 3: base pairs 160,256,986 to 160,399,532

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The IFT80 gene is located on the long (q) arm of chromosome 3 at position 25.33.

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? ( in the Handbook.

Where can I find additional information about IFT80?

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.

What other names do people use for the IFT80 gene or gene products?

  • ATD2
  • intraflagellar transport 80 homolog (Chlamydomonas)
  • KIAA1374
  • MGC126543
  • WDR56
  • WD repeat-containing protein 56
  • WD repeat domain 56

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding IFT80?

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.


  • 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. Epub 2007 Apr 29. (
  • NCBI Gene (
  • 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. (
  • 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. (


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? ( in the Handbook.

Reviewed: May 2015
Published: February 8, 2016