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ESCO2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ESCO2 gene

The ESCO2 gene provides instructions for a protein critical to the proper separation of chromosomes during cell division.

Normal Function

The ESCO2 gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate.

Health Conditions Related to Genetic Changes

Roberts syndrome

At least 30 ESCO2 gene mutations have been found to cause Roberts syndrome, which is characterized by limb and facial abnormalities and slow growth before and after birth. These mutations prevent the cell from producing any functional ESCO2 protein. The absence of functional ESCO2 protein causes some of the glue between sister chromatids to be missing around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by delaying cell division. Delayed cell division can be a signal that the cell should undergo self-destruction. The signs and symptoms of Roberts syndrome may be due to the loss of cells from various tissues during early development.

Other Names for This Gene

  • EFO2
  • ESCO2_HUMAN
  • establishment of cohesion 1 homolog 2
  • establishment of cohesion 1 homolog 2 (S. cerevisiae)

Frequently Asked Questions

Counselors review recurrence risk (typically 25% for each pregnancy if both parents carry a mutation), discuss options like pre‑implantation genetic diagnosis or prenatal testing, and explain the implications of carrier status for extended family members. They also provide emotional support and resources.
Currently, treatment is supportive—physical therapy, orthopedic care, and management of organ‑specific issues. Researchers are exploring gene‑replacement strategies in animal models, but no approved therapies exist yet. Patients can inquire about ongoing clinical trials through registries such as the Rare Diseases Clinical Research Network.
Many individuals experience growth failure, limb malformations, and developmental delays. With early intervention, some can achieve independent ambulation and speech milestones. However, life expectancy varies; some patients have severe cardiac or renal complications that may limit longevity. Regular multidisciplinary follow‑up is essential.
Roberts syndrome shows a characteristic “saw‑tooth” appearance of the long bones on X‑ray, with limb shortening and facial features such as a broad nasal bridge and micrognathia. Genetic testing for ESCO2 mutations is definitive; other conditions have distinct chromosomal or gene abnormalities.
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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