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MYCN gene

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

MYCN gene

The MYCN gene provides essential instructions for creating a protein that regulates tissue and organ development, and its mutations or amplification are linked to developmental disorders and cancer.

Overview

The MYCN gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during development before birth. Studies in animals suggest that this protein is necessary for the normal development of the limbs, heart, kidneys, lungs, nervous system, and digestive system. The MYCN protein acts as a transcription factor, regulating the activity of other genes by binding to specific regions of DNA to control the first step of protein production.

The MYCN gene belongs to a class of genes known as oncogenes, specifically the Myc family. When mutated, these genes have the potential to cause normal cells to become cancerous by disrupting the regulation of cell growth, division (proliferation), and self-destruction (apoptosis).

Health Conditions Related to Genetic Changes

Feingold syndrome

At least 36 mutations in the MYCN gene have been linked to Feingold syndrome type 1. This developmental disorder is characterized by:

  • Abnormalities of the fingers and toes, particularly shortening of the second and fifth fingers (brachymesophalangy).
  • Blockage in part of the digestive system (gastrointestinal atresia).
  • An unusually small head size (microcephaly).
  • Learning disabilities.

These mutations often lead to a premature stop signal in the protein-making instructions or the deletion of the entire gene. This results in a reduced amount of functional MYCN protein, though it remains unclear how this deficiency causes the specific features of the syndrome.

Neuroblastoma

Neuroblastoma is a cancerous tumor that arises in developing nerve cells. In about 25 percent of these cases, the MYCN gene undergoes gene amplification—a process where extra copies of the gene are created within a cell. This is a somatic mutation, meaning it is acquired during a person's lifetime and is not inherited. These tumors typically contain between 50 and 100 copies of the gene, and this amplification is associated with a more severe, aggressive form of the disease.

Retinoblastoma

Research indicates that MYCN gene amplification is also involved in the development of retinoblastoma, a rare form of eye cancer.

Genomic Location

The MYCN gene is found on chromosome 2.

Frequently Asked Questions

Key signs include shortened second and fifth fingers or toes, microcephaly (small head size), gastrointestinal atresia (partial blockage of the digestive tract), and learning difficulties. If these features appear together, a genetic evaluation for MYCN mutations is recommended.
Screening typically involves measuring urinary catecholamine metabolites (vanillylmandelic acid and homovanillic acid) and imaging studies such as abdominal ultrasound, CT, or MRI. If abnormal results arise, a biopsy may be performed to confirm neuroblastoma and assess MYCN status, which guides treatment intensity.
mplified MYCN is associated with a more aggressive tumor and poorer prognosis. Treatment often includes intensive chemotherapy, surgery, radiation, and sometimes stem‑cell transplant. Targeted therapies and immunotherapies are being explored, but standard care remains multimodal. Prognosis depends on age, stage, and response to initial therapy.
Since MYCN mutations are typically inherited in an autosomal dominant manner, each pregnancy carries a 50% risk of passing the mutation. Options include pre‑implantation genetic diagnosis (PGD) with IVF to select embryos without the mutation, prenatal testing via amniocentesis or chorionic villus sampling, or adoption. Genetic counseling is essential to discuss risks and choices.===
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.