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Genetics Home Reference: your guide to understanding genetic conditions
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IFT140

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.

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?

The IFT140 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.

How are changes in the IFT140 gene related to health conditions?

Mainzer-Saldino syndrome - caused by mutations in the IFT140 gene

At least nine IFT140 gene mutations have been identified in people with Mainzer-Saldino syndrome, a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body and resulting in the signs and symptoms of Mainzer-Saldino syndrome. Disorders such as Mainzer-Saldino syndrome that are caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies.

other disorders - caused by mutations in the IFT140 gene

Mutations in the IFT140 gene have also been identified in a few families diagnosed with asphyxiating thoracic dystrophy, also known as Jeune syndrome. Asphyxiating thoracic dystrophy is characterized by an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing often result, and most people with asphyxiating thoracic dystrophy live only into infancy or early childhood. Individuals diagnosed with asphyxiating thoracic dystrophy who have IFT140 gene mutations are less likely to have breathing problems and more likely to have short stature than are other people with this disorder.

Where is the IFT140 gene located?

Cytogenetic Location: 16p13.3

Molecular Location on chromosome 16: base pairs 1,510,426 to 1,612,107

The IFT140 gene is located on the short (p) arm of chromosome 16 at position 13.3.

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 1,510,426 to base pair 1,612,107 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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?

  • c305C8.4
  • c380F5.1
  • gs114
  • IF140_HUMAN
  • intraflagellar transport 140 homolog (Chlamydomonas)
  • intraflagellar transport protein 140 homolog
  • KIAA0590
  • MZSDS
  • WD and tetratricopeptide repeats protein 2
  • WDTC2

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding IFT140?

cell ; gene ; kidney ; protein ; retina ; short stature ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Behal RH, Miller MS, Qin H, Lucker BF, Jones A, Cole DG. Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins. J Biol Chem. 2012 Apr 6;287(15):11689-703. doi: 10.1074/jbc.M111.287102. Epub 2011 Dec 14. (http://www.ncbi.nlm.nih.gov/pubmed/22170070?dopt=Abstract)
  • OMIM: INTRAFLAGELLAR TRANSPORT 140, CHLAMYDOMONAS, HOMOLOG OF (http://omim.org/entry/614620)
  • Jonassen JA, SanAgustin J, Baker SP, Pazour GJ. Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation. J Am Soc Nephrol. 2012 Apr;23(4):641-51. doi: 10.1681/ASN.2011080829. Epub 2012 Jan 26. (http://www.ncbi.nlm.nih.gov/pubmed/22282595?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9742)
  • Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/22503633?dopt=Abstract)
  • Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 May;34(5):714-24. doi: 10.1002/humu.22294. (http://www.ncbi.nlm.nih.gov/pubmed/23418020?dopt=Abstract)

 

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.

 
Reviewed: May 2013
Published: April 13, 2015