HIST1H2BF
Histone H2B: A Key Epigenetic Regulator
Description
Histone H2B is a core histone protein that plays a crucial role in the organization and regulation of DNA in eukaryotic cells. It is one of the five major histone proteins that make up the nucleosome, the basic unit of chromatin structure. Histone H2B is characterized by its highly conserved amino acid sequence and its essential role in transcriptional regulation.
Associated Diseases
Mutations in the gene encoding histone H2B have been linked to a variety of diseases, including:
- Cancer: Mutations in histone H2B have been found in several types of cancer, including breast cancer, colon cancer, and leukemia. These mutations can disrupt the normal function of histone H2B, leading to abnormal gene expression and increased cell proliferation.
- Neurodegenerative disorders: Mutations in histone H2B have also been associated with neurodegenerative disorders such as Alzheimer's disease and Parkinson's disease. These mutations can affect the proper function of neurons and contribute to the development of these devastating conditions.
- Developmental disorders: Mutations in histone H2B have been implicated in developmental disorders such as Angelman syndrome and Prader-Willi syndrome. These mutations can disrupt the normal development of the brain and other organs.
Did you Know ?
Histone H2B is one of the most abundant histone proteins in the cell, accounting for approximately 20% of total histone content. This abundance reflects the critical role that histone H2B plays in the regulation of gene expression and chromatin structure.
