Disease-gene associations mined from literature

Literature associating HIST1H2AA and amelogenesis imperfecta type 3

HIST1H2AA [ENSP00000297012]

Histone cluster 1, H2aa; 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:  HIST1H2AA,  Q96QV6,  H2AFR,  Q96QV6p,  hQ96QV6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM