MYCN proto-oncogene, bHLH transcription factor
The MYCN gene provides instructions for making a protein that plays an important role in the formation of tissues and organs during embryonic development. Studies in animals suggest that this protein is necessary for normal development of the limbs, heart, kidneys, nervous system, digestive system, and lungs. The MYCN protein regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, this protein is called a transcription factor.
The MYCN gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous. The MYCN gene is a member of the Myc family of oncogenes. These genes play important roles in regulating cell growth and division (proliferation) and the self-destruction of cells (apoptosis).
At least 29 mutations involving the MYCN gene have been found to cause Feingold syndrome. Most mutations lead to a premature stop signal in the instructions for making the protein. In some cases of Feingold syndrome, the entire MYCN gene is deleted. These genetic changes prevent one copy of the gene in each cell from producing any functional MYCN protein. As a result, only half the normal amount of this protein is available to control the activity of specific genes during embryonic development. It remains unclear how a reduced amount of the MYCN protein causes the varied features of Feingold syndrome.
Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Somatic mutations sometimes occur when DNA makes a copy of itself (replicates) in preparation for cell division. Errors in the replication process can result in one or more extra copies of a gene within a cell. The presence of extra copies of certain genes, known as gene amplification, can underlie the formation and growth of tumor cells. For example, amplification of the MYCN gene is found in about 25 percent of neuroblastomas. Neuroblastoma is a type of cancerous tumor that arises in developing nerve cells. The number of copies of the MYCN gene varies widely among these tumors but is typically between 50 and 100. Amplification of the MYCN gene is associated with a more severe form of neuroblastoma. It is unknown how amplification of this gene contributes to the aggressive nature of neuroblastoma.
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- N-myc proto-oncogene protein
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- neuroblastoma MYC oncogene
- oncogene NMYC
- v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
- v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
- v-myc myelocytomatosis viral related oncogene, neuroblastoma derived
- v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)