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MN1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MN1 gene

The MN1 gene plays a critical role in regulating the activity of other genes, particularly those involved in the development of the skull and brain.

Normal Function

The MN1 gene provides instructions for making a protein that interacts with transcription factors. These proteins attach to specific areas of DNA to control the activity of other genes. The MN1 protein is thought to be essential for regulating genes required for proper skull and brain development.

Health Conditions Related to Genetic Changes

MN1 C-terminal truncation syndrome

At least 11 mutations in the MN1 gene cause MN1 C-terminal truncation (MCTT) syndrome, a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.

  • These mutations occur near the end (terminal) of the gene, resulting in an abnormally short (truncated) protein.
  • Shortened MN1 proteins cannot interact with other proteins and instead build up in the cell nucleus.
  • The shortage of functional MN1 prevents the regulation of genes involved in skull and brain development.

Other disorders

  • Hearing and speech: Mutations in the front portion of the gene result in an abnormally short protein that is quickly broken down, leading to hearing loss and speech problems without other MCTT symptoms.
  • Large deletions: Deletions of DNA including the MN1 gene can cause developmental delay, intellectual disabilities, and craniofacial abnormalities.
  • Leukemia: Increased activity (overexpression) of the MN1 gene, often caused by a fusion gene created by chromosomal breaks, is associated with a poor prognosis in leukemia. These are somatic changes and are not inherited.

Other Names for This Gene

  • MGCR
  • MGCR1
  • MGCR1-PEN

Genomic Location

The MN1 gene is found on chromosome 22.

Frequently Asked Questions

Yes, mutations in the front portion of MN1 can lead to a short protein that is rapidly degraded, resulting mainly in hearing loss and speech problems. Audiologic evaluation and early speech therapy are recommended, and hearing aids or cochlear implants may be considered based on severity.
Early intervention services—speech therapy, occupational therapy, physical therapy, and special education—are critical. Regular neurodevelopmental assessments guide therapy intensity. While no cure exists, supportive care, including seizure monitoring if present, can improve quality of life.
Parents should watch for delayed speech and motor milestones, feeding difficulties, and distinctive facial features such as a broad nasal bridge or micrognathia. Early brain imaging (MRI) can reveal structural abnormalities, and a genetic test confirming a truncating mutation in the MN1 gene confirms the diagnosis. Early referral to a developmental pediatrician and a multidisciplinary team can help plan interventions.
confirmed pathogenic MN1 mutation is inherited in an autosomal dominant pattern, meaning each child has a 50 % chance of inheriting the mutation. Prenatal testing via chorionic villus sampling or amniocentesis, or pre‑implantation genetic diagnosis with IVF, can identify affected embryos. Discussing options with a genetic counselor is essential.
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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