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SKIC3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SKIC3 gene

The SKIC3 gene provides instructions for a protein involved in the SKI complex, which supports the cytosolic exosome in managing mRNA within cells.

Normal Function

The SKIC3 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 SKIC3 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

At least 25 variants in the SKIC3 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

Mutations in this gene likely eliminate the function of the SKIC3 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

  • KIAA0372
  • Ski3
  • tetratricopeptide repeat domain-containing protein 37
  • THES
  • thespin
  • TTC37

Frequently Asked Questions

Testing usually involves a blood draw for DNA extraction. The sample is sent for either a multigene panel that includes SKIC3/TTC37 or for whole‑exome sequencing. Turn‑around time ranges from 2 to 8 weeks depending on the laboratory. Results will indicate whether pathogenic, likely pathogenic, or variants of uncertain significance are present; a genetics counselor can help interpret the findings.
Yes. Infants who present with intractable diarrhea from birth, distinctive facial dysmorphism, hair abnormalities (sparse or brittle hair), and signs of liver dysfunction should be evaluated for trichohepatoenteric syndrome (THES), which is most often caused by biallelic pathogenic variants in the SKIC3 (also called TTC37) gene. Genetic testing (clinical exome or targeted SKIC3 sequencing) can confirm the diagnosis.
THES caused by SKIC3 mutations follows an autosomal‑recessive inheritance pattern. Both parents are typically carriers of one pathogenic variant each. For each subsequent pregnancy, there is a 25 % chance of an affected child, a 50 % chance the child will be an asymptomatic carrier, and a 25 % chance of inheriting two normal copies. Carrier testing for the parents and prenatal or pre‑implantation genetic diagnosis can be discussed with a genetic counselor.
There is no cure, but management focuses on supportive care: (1) aggressive nutritional support, often with parenteral or enteral tube feeding to address malabsorption; (2) liver monitoring and treatment of cholestasis or fibrosis; (3) dermatologic care for hair and skin issues; and (4) regular developmental and growth assessments. Early involvement of a multidisciplinary team (gastroenterology, hepatology, nutrition, genetics, and developmental pediatrics) improves outcomes.
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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