DISEASES

Disease-gene associations mined from literature

Literature associating PHF21A and Weaver syndrome

PHF21A [ENSP00000398824]

PHD finger protein 21A; Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation.

Synonyms:  PHF21A,  PHF21Ap,  hPHF21A,  A0A1B0GX09,  A0A1D5RMU1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM