NSD1 : nuclear receptor binding SET domain protein 1
NSD1: The Master Regulator of Gene Expression
Description
Deep within the cells of our bodies lies the remarkable NSD1 gene, the blueprint for a protein known as a histone methyltransferase. This molecular maestro plays a vital role in orchestrating the symphony of gene expression, the process by which the instructions encoded within our DNA are translated into functional proteins.
Histone methyltransferases work by modifying histones, the protein scaffolding that supports our genetic material. They attach a small chemical tag called a methyl group to these histones, influencing the accessibility of DNA and determining which genes are activated or silenced.
Associated Diseases
Mutations in the NSD1 gene can disrupt its normal function, leading to a range of developmental disorders and cancers. These include:
- Sotos syndrome: A condition characterized by excessive growth, distinctive facial features, and developmental delays.
- Weaver syndrome: Similar to Sotos syndrome, but with more severe skeletal abnormalities.
- Acute myeloid leukemia (AML): A type of blood cancer caused by the uncontrolled proliferation of immature blood cells.
- Other types of cancer, such as cervical cancer and colorectal cancer.
Did you Know ?
Approximately 1 in 15,000 newborns is affected by a mutation in the NSD1 gene, making it one of the most common genetic causes of developmental disorders.
