DISEASES

Disease-gene associations mined from literature

Literature associating SMARCA5 and alpha thalassemia-X-linked intellectual disability syndrome

SMARCA5 [ENSP00000283131]

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5; Helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity. Complexes containing SMARCA5 are capable of forming ordered nucleosome arrays on chromatin; this may require intact histone H4 tails. Also required for replication of pericentric heterochromatin in S-phase specifically in conjunction with BAZ1A. Probably plays a role in repression of polI dependent transcription of the rDNA locus, through the recruitment of the SIN3/HDAC1 corepressor complex to the rDNA promoter. 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. 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; Belongs to the SNF2/RAD54 helicase family. ISWI subfamily.

Synonyms:  SMARCA5,  SMARCA5p,  hSMARCA5,  O60264,  Q4W5G3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM