HIST1H2AC
Histone H2A.C: An Essential Protein with Unraveling Roles in Health and Disease
Description
Histone H2A.C is a protein that is an integral part of the nucleosome, the basic building block of chromatin. Chromatin is the complex that packages DNA within the nucleus of eukaryotic cells. Histone proteins, including H2A.C, serve as spools around which DNA is wound, maintaining its structure and regulating its accessibility.
H2A.C is one of the core histones that make up the nucleosome. It is composed of three distinct domains: the N-terminal tail, the central globular domain, and the C-terminal tail. These domains interact with each other and with the DNA wrapped around the nucleosome to ensure its stability and integrity.
Associated Diseases
Mutations in the H2A.C gene have been implicated in several diseases, including:
- Microcephalic primordial dwarfism: A rare genetic disorder characterized by severe growth retardation, intellectual disability, and microcephaly (a small head).
- Leukemia: A type of cancer that affects the blood and bone marrow, causing the overproduction of abnormal blood cells.
- Neuroblastoma: A childhood cancer that affects the nervous system, particularly the adrenal glands.
Did you Know ?
Approximately 1 in 800,000 newborns is affected by microcephalic primordial dwarfism, making it a rare but devastating condition.
