DISEASES

Disease-gene associations mined from literature

Literature associating H2AFX and Nijmegen breakage syndrome

H2AFX [ENSP00000434024]

H2A histone family, member X; 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.

Synonyms:  H2AFX,  H2AFXp,  hH2AFX,  P16104,  H2AX ...

Linkouts:  STRING  Pharos  UniProt