HIST1H2BG
Headline: Hist1h2bg: The Gene Linked to a Wide Range of Diseases
Description:
Hist1h2bg is a gene that encodes a protein called histone H2B. Histones are proteins that wrap around DNA to form chromatin, the structured material that makes up chromosomes. Histone modifications play a crucial role in regulating gene expression and DNA repair.
Associated Diseases:
Mutations in the hist1h2bg gene have been associated with a range of developmental disorders, cancer, and neurological conditions, including:
- Kabuki syndrome: Characterized by distinct facial features, intellectual disability, growth delays, and heart defects.
- CHARGE syndrome: A complex condition involving heart, eye, ear, and central nervous system anomalies.
- Arthrogryposis multiplex congenita: A group of conditions causing joint contractures and muscle weakness at birth.
- Rett syndrome: A genetic disorder that affects brain development in females.
- Childhood leukemia: Certain hist1h2bg mutations have been linked to an increased risk of leukemia in children.
- Glioblastoma: An aggressive form of brain cancer that can occur in both children and adults.
Did you Know ?
- Mutations in the hist1h2bg gene have been identified in approximately 1-2% of individuals with intellectual disability of unknown cause.
