H2AFY
H2AFY: An Essential Protein and Its Role in Cellular Health
Description:
H2AFY is a crucial histone protein found in the nucleus of eukaryotic cells. Histones are proteins that package DNA into compact structures called chromatin, enabling efficient gene regulation and DNA replication. H2AFY specifically forms part of the H2A-H2B dimer, a fundamental component of the nucleosome, the basic repeating unit of chromatin.
Associated Diseases:
Mutations in the H2AFY gene have been linked to several human diseases, including:
- Diaphragm disease: Mutations in H2AFY can cause diaphragm disease, a rare and life-threatening condition that affects the muscles responsible for breathing.
- Other genetic disorders: H2AFY mutations have also been implicated in a range of other genetic disorders, including immunodeficiency and hematological malignancies.
Did you Know ?
H2AFY is one of the most evolutionarily conserved proteins, with its sequence remaining remarkably similar across species from yeast to humans. This conservation highlights the critical role of H2AFY in cellular function.
