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Reviewed May 2013
What is the official name of the IFT140 gene?
The official name of this gene is “intraflagellar transport 140.”
IFT140 is the gene's official symbol. The IFT140 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the IFT140 gene?
The IFT140 gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that transmit information within and between cells. Cilia are important for the structure and function of many types of cells, including cells in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the retina also contain cilia, which are essential for normal vision. Cilia also play a role in the development of the bones, although the mechanism is not well understood.
The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport. This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. IFT particles are made of proteins produced from related genes that belong to the IFT gene family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes at least 6 proteins, and complex B, which includes at least 15 proteins. The protein produced from the IFT140 gene forms part of IFT complex A (IFT-A).
Does the IFT140 gene share characteristics with other genes?
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 IFT140 gene related to health conditions?
Genetics Home Reference provides information about asphyxiating thoracic dystrophy, which is also associated with changes in the IFT140 gene.
Where is the IFT140 gene located?
Cytogenetic Location: 16p13.3
Molecular Location on chromosome 16: base pairs 1,510,427 to 1,612,108
The IFT140 gene is located on the short (p) arm of chromosome 16 at position 13.3.
More precisely, the IFT140 gene is located from base pair 1,510,427 to base pair 1,612,108 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about IFT140?
You and your healthcare professional may find the following resources about IFT140 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 IFT140 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding IFT140?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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.