Disease-gene associations mined from literature

Literature associating BAZ1B and supravalvular aortic stenosis

BAZ1B [ENSP00000342434]

Williams-Beuren syndrome chromosomal region 10 protein; 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; Belongs to the WAL family. BAZ1B subfamily.

Synonyms:  BAZ1B,  BAZ1Bp,  hBAZ1B,  BAZ1B-001,  BAZ1B-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM