HIST2H2AC
Histone H2H2AC: A Key Player in Gene Regulation and Disease
Description
Histone H2H2AC is a variant of the canonical histone H2A protein, which is a fundamental component of chromatin, the complex of DNA and proteins that makes up chromosomes. Unlike conventional H2A, H2H2AC contains a unique insertion of seven amino acids in its C-terminal tail. This insertion alters the histone's structure and properties, conferring unique functions to H2H2AC.
H2H2AC is involved in a wide range of cellular processes, particularly gene regulation. It plays a crucial role in chromatin remodeling, which involves altering the structure of chromatin to allow or restrict access to DNA. This process is essential for regulating gene expression, cell division, and DNA repair.
Associated Diseases
Dysregulation of H2H2AC has been implicated in several diseases, including:
- Cancer: H2H2AC is often dysregulated in cancer cells, where it can promote uncontrolled cell growth and proliferation.
- Neurodegenerative disorders: H2H2AC is involved in neuronal development and function. Mutations in the H2H2AC gene have been linked to neurodegenerative diseases such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS).
- Developmental disorders: Aberrant H2H2AC expression has been associated with developmental disorders such as Cornelia de Lange syndrome.
Did you Know ?
Approximately 1% of the histone H2A proteins in human cells are H2H2AC variants. This small proportion plays a significant role in regulating gene expression and maintaining cellular homeostasis.
