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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 is part of a family called intraflagellar transport homologs. Genes in this family provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia also play an important role in the perception of sensory input (such as sight, hearing, and smell).
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. The IFT80 protein is part of a larger group of related proteins (a protein complex) called IFT complex B. During intraflagellar transport, this complex helps carry materials from the base to the tip of cilia.
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.
At least three mutations in the IFT80 gene have been identified in families with asphyxiating thoracic dystrophy. Two of these mutations change single protein building blocks (amino acids) in the IFT80 protein, and the third mutation deletes one amino acid from the protein. Researchers believe that each of these mutations disrupts the normal function of the IFT80 protein and impairs its ability to participate in intraflagellar transport. It is unclear, however, how mutations in the IFT80 gene lead to skeletal abnormalities, kidney problems, and the other features of asphyxiating thoracic dystrophy.
Cytogenetic Location: 3q25.33
Molecular Location on chromosome 3: base pairs 160,256,985 to 160,399,531
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 160,256,985 to base pair 160,399,531 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 ; amino acid ; cell ; domain ; gene ; homologs ; kidney ; mutation ; perception ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.