HIST1H2AH
Hist1h2ah: Insights Into Its Role in Human Health and Disease
Description
Hist1h2ah, also known as histone H2A histone family, member H, is a protein-coding gene that plays a crucial role in the organization and accessibility of genetic information within the cell nucleus. It is involved in the formation of nucleosomes, the basic structural units of chromatin, which regulates gene expression and DNA replication.
Associated Diseases
Mutations in the Hist1h2ah gene have been linked to several diseases, including:
- Microcephalic primordial dwarfism: A rare genetic disorder characterized by severe growth retardation, intellectual disability, and distinctive facial features.
- Globoid cell leukodystrophy (Krabbe disease): A fatal neurodegenerative disorder that affects infants and young children, impairing motor skills and leading to blindness and deafness.
- Schimke immuno-osseous dysplasia: A rare genetic condition that affects bone growth, immune function, and kidney function.
- Cancer: Altered expression of Hist1h2ah has been implicated in the development and progression of certain cancers, including gastric cancer, breast cancer, and lung cancer.
Did you Know ?
According to a recent study published in the journal Nature Genetics, mutations in the Hist1h2ah gene are found in approximately 1 in 50,000 people worldwide.
