H2AFB1
h2afb1: The Gene Linked to Cancer and Developmental Disorders
Description
h2afb1 (H2A histone family, member B1) is a gene that encodes a core histone protein. Histones are essential proteins that package and organize DNA within cells. They play a vital role in regulating gene expression and maintaining genomic stability.
Associated Diseases
Mutations in the h2afb1 gene have been linked to a range of diseases, including:
- Cancer: h2afb1 mutations have been identified in various types of cancer, such as melanoma, lung cancer, and leukemia.
- Developmental disorders: h2afb1 mutations have been associated with neurodevelopmental disorders, such as intellectual disability, autism spectrum disorder, and spinal muscular atrophy.
Did you Know ?
Approximately 1 in 100,000 people carry a mutation in the h2afb1 gene. This mutation increases the risk of developing cancer or developmental disorders.
