Aliases for H2AFX Gene
External Ids for H2AFX Gene
Previous HGNC Symbols for H2AFX Gene
Previous GeneCards Identifiers for H2AFX Gene
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Jul 2008]
GeneCards Summary for H2AFX Gene
H2AFX (H2A Histone Family, Member X) is a Protein Coding gene. Diseases associated with H2AFX include vulvar intraepithelial neoplasia. Among its related pathways are Disease and Cell Cycle, Mitotic. GO annotations related to this gene include protein heterodimerization activity and histone binding. An important paralog of this gene is HIST1H2AM.
UniProtKB/Swiss-Prot for H2AFX Gene
Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low doses of ionizing radiation and for efficient repair of DNA double strand breaks (DSBs) specifically when modified by C-terminal phosphorylation.