DISEASES

Disease-gene associations mined from literature

BAZ1B disease associations

BAZ1B [ENSP00000342434]

Tyrosine-protein kinase BAZ1B; Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at 'Tyr-142', and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication. ECO:0000269|PubMed:15543136, ECO:0000269|PubMed:16603771,; Belongs to the WAL family. BAZ1B subfamily.

Synonyms:  BAZ1B,  BAZ1Bp,  hBAZ1B,  Q9UIG0,  Q9UIG0p ...

Linkouts:  STRING  Pharos  UniProt  OMIM