HIST2H2BA
Hist2h2ba: A Key Histone Variant in Health and Disease
Description
Hist2h2ba is a variant of the histone H2A protein, which is a major component of the nucleosomes that package DNA within the nucleus of eukaryotic cells. Histones play a crucial role in regulating gene expression by controlling the accessibility of DNA to transcription factors.
Hist2h2ba is characterized by its unique amino acid sequence and post-translational modifications. It is predominantly found in heterochromatin regions of the genome, which are tightly packed and generally transcriptionally inactive.
Associated Diseases
Aberrant expression or mutations in hist2h2ba have been linked to several human diseases, including:
- Cancer: Hist2h2ba deregulation is observed in various types of cancer, including breast, lung, and prostate cancer. It can promote tumor growth, metastasis, and resistance to therapy.
- Neurological disorders: Mutations in hist2h2ba have been associated with neurological disorders such as epilepsy, intellectual disability, and autism spectrum disorder.
- Cardiovascular disease: Hist2h2ba deficiency has been shown to impair cardiac function and contribute to the development of heart failure.
Did you Know ?
Approximately 5-10% of all circulating cell-free DNA in the blood is derived from hist2h2ba-containing nucleosomes. This suggests that hist2h2ba may play a role in regulating the release and uptake of genetic material in the extracellular environment.
