HIST1H2BK
HIST1H2BK: A Gene Linked to Cancer and Neurological Disorders
Description
HIST1H2BK is a gene that encodes a histone protein, H2BK, which is a crucial component of chromatin, the DNA-packaging complex within our cells. H2BK helps regulate gene expression, DNA replication, and DNA repair.
Associated Diseases
Mutations in HIST1H2BK have been linked to several diseases, including:
- Cancer: HIST1H2BK mutations are present in approximately 10% of all cancer cases, making it one of the most frequently mutated genes in human cancers. These mutations are particularly common in leukemia, lymphoma, and lung, breast, and colorectal cancers.
- Neurological disorders: HIST1H2BK mutations have also been implicated in neurological disorders, such as intellectual disability, autism spectrum disorder, and schizophrenia.
Did you Know ?
- High Prevalence in Leukemia: HIST1H2BK mutations are found in 20-30% of acute myeloid leukemia (AML) cases, making it the most commonly mutated gene in AML.