DISEASES

Disease-gene associations mined from literature

Literature associating H2BS1 and autosomal recessive Alport syndrome

H2BS1 [ENSP00000481622]

Histone H2B type F-S; 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:  H2BS1,  H2BS1p,  hH2BS1,  H2BFS,  P57053 ...

Linkouts:  STRING  Pharos  UniProt