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

SKI gene

The SKI gene provides instructions for making a protein that regulates cell growth, division, and signaling through the TGF-β pathway.

Normal Function

The SKI gene provides instructions for making a protein involved in a signaling pathway that transmits chemical signals from the cell surface to the nucleus. This pathway, called the transforming growth factor beta (TGF-β) pathway, allows the environment outside the cell to affect how the cell produces other proteins. It helps regulate cell growth and division (proliferation), the process by which cells mature to carry out special functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis).

Through this pathway, a group of proteins called the SMAD complex is activated. The activated SMAD protein complex moves to the cell nucleus and attaches (binds) to specific areas of DNA to control the activity of particular genes, which help regulate various cellular processes.

The SKI protein controls the activity of the TGF-β pathway by binding to certain SMAD proteins, which interrupts signaling through the pathway. SKI protein binding within the cell can keep the SMAD protein complex from entering the nucleus, so it is unable to activate genes. Binding of the SKI protein can also occur in the nucleus. Although the SMAD complex binds to DNA, the SKI protein attracts other proteins (corepressors) that block its ability to turn genes on.

The SKI protein is found in many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brain.

Health Conditions Related to Genetic Changes

Shprintzen-Goldberg syndrome

At least 10 mutations in the SKI gene have been found in people with Shprintzen-Goldberg syndrome, a condition characterized by distinctive facial features, skeletal abnormalities, and intellectual disability. Most of these mutations change single protein building blocks (amino acids) in the SKI protein. Many of the mutations alter the region of the SKI protein that binds to SMAD proteins. It is thought that altered SKI proteins are unable to attach to SMAD proteins, which allows TGF-β signaling to continue uncontrolled. Excess TGF-β signaling changes the regulation of gene activity and likely disrupts development of many body systems, including the bones and brain.

Other Names for This Gene

  • proto-oncogene c-Ski
  • ski oncogene
  • ski oncoprotein
  • SKI_HUMAN
  • v-ski avian sarcoma viral oncogene homolog
  • v-ski sarcoma viral oncogene homolog (avian)

Frequently Asked Questions

People with Shprintzen‑Goldberg syndrome often have a tall, slender build, a long face with a prominent forehead, a high‑arched palate, and a wide, slightly curved spine. They may also have soft, translucent skin, a small jaw (micrognathia), and a tendency toward easy bruising. These features, especially when combined with a family history of connective‑tissue problems, can prompt a clinician to order genetic testing for SKI mutations.
The syndrome is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder. If a parent carries a pathogenic SKI mutation, there is a 50 % chance of passing it to each child. Genetic counseling can help families understand recurrence risks and discuss options such as prenatal testing or pre‑implantation genetic diagnosis.
Confirmation is done through a DNA test that looks for specific changes in the SKI gene. The test usually requires a blood sample or a cheek swab. The sample is sent to a specialized laboratory where sequencing or targeted mutation analysis is performed. Results are reported as either a pathogenic mutation, a variant of uncertain significance, or no mutation found.
Individuals with a SKI mutation should have regular cardiovascular checks (echocardiograms and blood pressure monitoring) because of the risk of aortic dilation or aneurysm. Skeletal surveys to monitor for scoliosis or joint laxity, eye exams for myopia or lens dislocation, and developmental assessments for speech or learning difficulties are also recommended. Early detection of these issues allows timely intervention and reduces complications.
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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