Disease-gene associations mined from literature

Literature associating BAZ1A and Baraitser-Winter syndrome

BAZ1A [ENSP00000353458]

Williams syndrome transcription factor-related chromatin-remodeling factor 180; Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end- positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression; Belongs to the WAL family.

Synonyms:  BAZ1A,  BAZ1Ap,  hBAZ1A,  D3DS96,  Q9NRL2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM