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KIF7 gene

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

KIF7 gene

The KIF7 gene provides instructions for a protein that helps maintain primary cilia and regulates the Sonic Hedgehog signaling pathway during development.

Normal Function

The KIF7 gene provides instructions for making a protein that is associated with structures called primary cilia. These microscopic, finger-like projections stick out from the surface of cells and are involved in signaling pathways that transmit information into cells. Studies suggest that the KIF7 protein helps to maintain the proper length and stability of cilia.

Through its association with primary cilia, the KIF7 protein helps regulate a signaling pathway known as Sonic Hedgehog. This pathway is essential for early development. It plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body, including the brain and limbs.

Health Conditions Related to Genetic Changes

Acrocallosal syndrome

At least 20 mutations in the KIF7 gene have been identified in people with acrocallosal syndrome. This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. Most of the KIF7 gene mutations that cause acrocallosal syndrome lead to the production of an abnormally short, nonfunctional version of the KIF7 protein or prevent any protein from being produced from the gene. Little is known about the effects of these mutations, although they likely disrupt Sonic Hedgehog signaling during early development. It is unclear how these changes impair the development of the brain, limbs, and other parts of the body in people with acrocallosal syndrome.

Joubert syndrome

MedlinePlus Genetics provides information about Joubert syndrome.

Other Names for This Gene

  • ACLS
  • AGBK
  • EQYK340
  • HLS2
  • JBTS12
  • kinesin-like protein KIF7
  • UNQ340

Frequently Asked Questions

Newborns with KIF7 mutations often show distinctive facial features such as widely spaced eyes, a prominent forehead, and sometimes a cleft palate. Neurologically, they may have abnormal brain imaging findings like a midline cerebellar vermis defect or callosal thinning. Limb anomalies such as extra digits (polydactyly) or shortened fingers and toes can also appear early. If any of these features are noted, a prompt referral to a geneticist for evaluation is recommended.
Confirmation typically requires a DNA test from a blood or saliva sample. The test uses next‑generation sequencing panels that include KIF7, or a whole‑exome approach if a broader assessment is needed. The lab will look for pathogenic variants, such as nonsense or frameshift mutations that truncate the protein. Results are usually available within 4–6 weeks, and a genetic counselor will explain the findings and their implications.
Because KIF7 mutations affect Sonic Hedgehog signaling, children may need multidisciplinary care. Neurologic monitoring (e.g., developmental milestones, seizure screening), ophthalmologic exams for vision problems, and orthopedic assessments for limb abnormalities are common. Early intervention services, such as physical and occupational therapy, can help address motor delays. Regular growth and endocrine evaluations are also advised, as some patients develop growth hormone deficiencies.
Research is ongoing into small molecules that modulate Hedgehog signaling, but no approved targeted therapy exists yet. Patients can inquire about participation in clinical trials through registries like the Rare Diseases Clinical Research Network or by contacting research centers specializing in ciliopathies. Keeping an eye on updates from the International Ciliopathy Consortium may also provide new options.===
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.