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EMG1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EMG1 gene

The EMG1 gene provides instructions for creating a protein essential for ribosome production and cellular growth.

Normal Function

The EMG1 gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus.

The EMG1 protein is involved in the assembly of a part of the ribosome called the small subunit (SSU). In this role, the EMG1 protein functions as part of a protein complex called the SSU processome. In addition to helping to assemble the SSU, the SSU processome is involved in the maturation of a molecule called 18S rRNA, which is a chemical cousin of DNA that is incorporated into the SSU.

Health Conditions Related to Genetic Changes

Bowen-Conradi syndrome

An EMG1 gene mutation common in the Hutterite population of the United States and Canada causes Bowen-Conradi syndrome, a disorder that affects many parts of the body and is usually fatal in the first few months of life. The mutation, written as Asp86Gly or D86G, changes the amino acid aspartic acid to glycine at position 86 in the EMG1 protein.

Studies suggest that the mutation makes the protein unstable, resulting in a decrease in the amount of EMG1 protein available in the nucleolus. A shortage of this protein would impair ribosome production, which may reduce cell growth and division; however, it is unknown how EMG1 gene mutations lead to the specific signs and symptoms of Bowen-Conradi syndrome.

Other Names for This Gene

  • 18S rRNA (pseudouridine(1248)-N1)-methyltransferase
  • 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1
  • 18S rRNA Psi1248 methyltransferase
  • C2F
  • EMG1 N1-specific pseudouridine methyltransferase
  • EMG1 nucleolar protein homolog
  • essential for mitotic growth 1
  • Grcc2f
  • NEP1
  • NEP1_HUMAN
  • ribosomal RNA small subunit methyltransferase NEP1
  • ribosome biogenesis protein NEP1

Frequently Asked Questions

Because the condition is severe and often fatal within months, care focuses on maximizing comfort and addressing organ‑specific complications. This includes respiratory support for apnea, nutritional support (often via feeding tube), management of cardiac anomalies, and vigilant infection control. Palliative care teams can help families navigate treatment goals and quality‑of‑life decisions.
To date, no disease‑modifying therapy exists. Research is ongoing in the field of ribosomopathies, exploring small‑molecule chaperones that might stabilize mutant EMG1 protein, but these are still pre‑clinical. Families should inquire with major pediatric genetics centers or clinicaltrials.gov for any newly opened trials.
Yes. Carrier testing is available through specialized genetic laboratories. If both parents are carriers, each pregnancy has a 25 % chance of producing an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected non‑carrier. Genetic counseling before conception can help the couple understand these numbers and discuss options such as pre‑implantation genetic testing or prenatal diagnosis.
If the family’s specific EMG1 mutation is known, chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) can be used to obtain fetal DNA for targeted molecular analysis. Non‑invasive prenatal testing (NIPT) does not currently detect single‑gene disorders like EMG1, so invasive testing is required for definitive results.
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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