DISEASES

Disease-gene associations mined from literature

Literature associating HIST1H2AH and syndromic X-linked intellectual disability

HIST1H2AH [ENSP00000366679]

Histone cluster 1, H2ah; Core component of nucleosome. 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.

Synonyms:  HIST1H2AH,  Q96KK5,  HIST1H2AI,  Q96KK5p,  hQ96KK5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM