DISEASES

Disease-gene associations mined from literature

Literature associating H2AFY and alpha thalassemia-X-linked intellectual disability syndrome

H2AFY [ENSP00000423563]

Medulloblastoma antigen MU-MB-50.205; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. 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. Involved in stable X chromosome inactivation. Inhibits the binding of transcription factors, including NF-kappa-B, and interferes with the activity of remodeling SWI/SNF complexes. Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin.

Synonyms:  H2AFY,  H2AFYp,  hH2AFY,  B4DJC3,  D6RCF2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM