DISEASES

Disease-gene associations mined from literature

Literature on MACROH2A1

MACROH2A1 [ENSP00000423563]

Core histone macro-H2A.1; 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 (PubMed:12718888, PubMed:16428466). Inhibits histone acetylation by EP300 and recruits class I HDACs, which induces a hypoacetylated state of chromatin . ECO:0000269|PubMed:15621527, ECO:0000269|PubMed:15897469, [Isoform 2]: Represses SOD3 gene expression.

Synonyms:  MACROH2A1,  B4DJC3,  D6RCF2,  H2AFY,  O75367 ...

Linkouts:  STRING  Pharos  UniProt  OMIM