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IFT140 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IFT140 gene

The IFT140 gene plays a critical role in the assembly and maintenance of cilia, which are vital for sensory perception and organ development.

Normal Function

The IFT140 gene provides instructions for making a protein involved in the formation and maintenance of cilia. These microscopic, finger-like projections participate in signaling pathways that transmit information within and between cells. Cilia are important for the structure and function of many cell types, including those in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the retina contain cilia that are essential for normal vision, and cilia also play a role in bone development.

The movement of substances within cilia is known as intraflagellar transport, which is essential for the assembly and maintenance of these structures. Cells use IFT particles to carry materials to and from the tips of cilia. These particles are composed of two groups of proteins: complex A and complex B. The protein produced from the IFT140 gene forms part of IFT complex A (IFT-A).

Health Conditions Related to Genetic Changes

Mainzer-Saldino syndrome

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 this gene may change the shape of the IFT140 protein or its interactions with other IFT proteins, impairing the assembly of IFT-A and the maintenance of cilia. Because these cilia are fewer in number or dysfunctional, many organs and tissues are affected. Disorders caused by problems with cilia that involve bone abnormalities are known as skeletal ciliopathies.

Asphyxiating thoracic dystrophy

MedlinePlus Genetics provides information about Asphyxiating thoracic dystrophy.

Retinitis pigmentosa

MedlinePlus Genetics provides information about Retinitis pigmentosa.

Other Names for This Gene

  • 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

Frequently Asked Questions

Renal function (serum creatinine, eGFR, urinalysis) should be checked every 3–6 months in childhood and at least annually in adulthood, with renal ultrasound every 1–2 years. Ophthalmologic exams, including fundus photography and visual field testing, are advised annually or more frequently if visual symptoms progress. Early referral to a nephrologist and retinal specialist is critical.
Testing is usually performed via a targeted ciliopathy gene panel or whole‑exome sequencing, using DNA extracted from peripheral blood. Saliva kits are an alternative when blood draw is impractical. The laboratory reports pathogenic or likely pathogenic variants in IFT140 and may also detect copy‑number changes.
There is no cure for the underlying ciliary defect, but orthopedic interventions can improve function. Regular assessment by a pediatric orthopedist helps identify spinal curvature or rib cage restriction early; bracing or surgical correction may be needed for severe thoracic dystrophy. Physical therapy promotes mobility and respiratory strength. While the genetic defect cannot be prevented, timely orthopedic care can mitigate complications.
Key red flags include early‑onset chronic kidney disease (often tubulointerstitial), retinal degeneration leading to night blindness or visual field loss, and skeletal anomalies such as short ribs, narrow thorax, or cone‑shaped epiphyses. The combination of renal dysfunction, progressive vision loss, and distinctive bone findings strongly suggests Mainzer‑Saldino syndrome.
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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