H2AFY2
H2AFY2: The Histone Variant Linked to Developmental Disorders and Cancer
Description
H2AFY2 (H2A histone family, member Y2) is a histone variant that replaces the canonical histone H2A in specific regions of chromatin. Histones are the building blocks of nucleosomes, which package DNA into condensed structures called chromosomes. H2AFY2 is enriched at regions of active gene expression, where it is thought to play a role in regulating gene transcription.
Associated Diseases
Mutations in H2AFY2 have been linked to several developmental disorders, including:
- Microcephaly: A condition characterized by an abnormally small head size.
- Intellectual disability: Difficulties with cognitive functioning and adaptive behavior.
- Structural brain abnormalities: Malformations in the development of the brain.
- Cancer: H2AFY2 mutations have also been implicated in certain types of cancer, such as acute myeloid leukemia and breast cancer.
Did you Know ?
Approximately 1 in 300,000 individuals has a mutation in H2AFY2, making it a relatively rare genetic condition. However, the effects of these mutations can be severe, highlighting the importance of understanding their molecular mechanisms.
