HIST1H2BB
HIST1H2BB: A Gene Linked to Cancer and Other Diseases
Description:
HIST1H2BB is a gene that encodes a histone protein called histone H2B. Histones are essential components of chromatin, the material that makes up chromosomes. They play a crucial role in regulating gene expression and DNA replication.
Associated Diseases:
Mutations in the HIST1H2BB gene have been linked to a number of diseases, including:
- Cancer: Mutations in HIST1H2BB have been found in various types of cancer, including breast cancer, colorectal cancer, and melanoma. These mutations can lead to abnormal chromatin structure, which can disrupt gene regulation and promote tumor growth.
- Neurological disorders: Mutations in HIST1H2BB have also been implicated in neurological disorders such as spinocerebellar ataxia type 36 and intellectual disability. These mutations can affect the structure and function of neurons, leading to neurological symptoms.
- Heart disease: HIST1H2BB mutations have been associated with an increased risk of heart disease, particularly in individuals with a family history of the condition.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are estimated to have a mutation in the HIST1H2BB gene.