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IFT80 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IFT80 gene

The IFT80 gene provides instructions for creating a protein essential for the assembly and maintenance of cilia, which are critical for bone and cartilage development.

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, which 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. This process is essential for the assembly and maintenance of cilia. These cell structures play central roles in many different chemical signaling pathways, including the Sonic Hedgehog pathway. These pathways are important for the growth, division (proliferation), and maturation (differentiation) of cells, particularly those that 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 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 signaling pathways, such as the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth.
  • While the disorder can be associated with abnormalities of the kidneys, liver, and retinas, features resulting from IFT80 gene mutations are usually limited to problems with bone growth.

Other Names for This Gene

  • ATD2
  • IFT80_HUMAN
  • intraflagellar transport 80 homolog (Chlamydomonas)
  • KIAA1374
  • MGC126543
  • WD repeat domain 56
  • WD repeat-containing protein 56
  • WDR56

Frequently Asked Questions

Procedures such as rib‑spreading (vertical expandable prosthetic titanium rib) or thoracic expansion surgeries can increase thoracic volume, but they carry significant risk and are considered only when respiratory failure is refractory to medical management.
small, rigid chest limits lung expansion, leading to chronic restrictive lung disease and frequent respiratory infections; many infants require supplemental oxygen, non‑invasive ventilation, or early tracheostomy to maintain adequate ventilation.
Clinical genetic testing using next‑generation sequencing panels for skeletal dysplasias or whole‑exome sequencing can identify missense, nonsense, or splice‑site mutations in IFT80; results are interpreted alongside radiographic findings and family history.
Ciliary dysfunction disrupts bone modeling, resulting in short stature, limb shortening, and joint deformities; regular orthopedic surveillance, physiotherapy, and sometimes corrective osteotomies are needed to maintain mobility and prevent fractures.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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