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SKIC2 gene

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

SKIC2 gene

The SKIC2 gene provides instructions for a protein thought to be part of the SKI complex, which is essential for the function of the cytosolic exosome.

Normal Function

The SKIC2 gene provides instructions for making a protein whose function has not been confirmed. Based on its similarity to a protein in other organisms, researchers speculate that the SKIC2 protein acts as part of a group of proteins called the SKI complex. This complex is thought to be necessary for the function of another large protein complex known as the cytosolic exosome.

Within cells, the cytosolic exosome helps to recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of DNA that serves as the genetic blueprint for protein production. Studies suggest that the cytosolic exosome's role in getting rid of excess and abnormal mRNA is important for cell growth.

Health Conditions Related to Genetic Changes

Trichohepatoenteric syndrome

Variants in the SKIC2 gene have been found to cause trichohepatoenteric syndrome, a rare condition that affects many parts of the body. Its major signs and symptoms include:

  • Chronic diarrhea starting in infancy
  • Hair abnormalities
  • Distinctive facial features
  • Liver disease

Variants in this gene likely eliminate the function of the SKIC2 protein. Researchers hypothesize that a loss of this protein's function impairs the activity of the SKI complex and the cytosolic exosome.

Other Names for This Gene

  • helicase SKI2W
  • SKI2
  • SKI2 homolog, superkiller viralicidic activity 2-like
  • SKI2W
  • SKIV2
  • SKIV2L
  • SKIV2L1
  • THES2

Frequently Asked Questions

The syndrome typically presents in infancy with chronic, watery diarrhea that is often resistant to standard treatments. Hair abnormalities include sparse, curly, or brittle hair that may be absent at birth. Distinct facial features such as a broad nasal bridge, large ears, and a prominent forehead are common, and many affected children develop liver dysfunction, leading to jaundice or elevated liver enzymes.
Diagnosis is confirmed by genetic testing that identifies pathogenic variants in the SKIC2 gene. A blood sample is analyzed using next‑generation sequencing panels that include SKIC2. In addition, a stool study can rule out infectious causes of diarrhea, and liver imaging or biopsy may be performed to assess hepatic involvement.
Management focuses on supportive care: aggressive fluid and electrolyte replacement, high‑calorie diets, and the use of anti‑diarrheal agents such as loperamide or octreotide. In some cases, elemental formulas or total parenteral nutrition may be necessary. Because the underlying cause is a defect in RNA degradation, no curative therapy exists yet, but ongoing research into targeted molecular treatments is underway.
The prognosis varies; many children survive into adolescence with appropriate medical support, but they often require multidisciplinary care for growth, nutrition, and liver health. Early intervention with speech and occupational therapy can improve developmental outcomes. Families should work closely with a genetics team, gastroenterologist, hepatologist, and dietitian to create a comprehensive care plan and to monitor for complications such as liver failure or malnutrition.
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.