DISEASES

Disease-gene associations mined from literature

Literature associating BAZ2A and asphyxiating thoracic dystrophy 2

BAZ2A [ENSP00000446880]

Bromodomain adjacent to zinc finger domain protein 2A; Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on 'Lys-16' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity); Belongs to the WAL family.

Synonyms:  BAZ2A,  BAZ2Ap,  hBAZ2A,  A0A0C4DGI9,  F8VU39 ...

Linkouts:  STRING  Pharos  UniProt  OMIM