Aliases for PHF21A Gene
External Ids for PHF21A Gene
The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]
GeneCards Summary for PHF21A Gene
PHF21A (PHD Finger Protein 21A) is a Protein Coding gene. Diseases associated with PHF21A include potocki-shaffer syndrome. Among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.
UniProtKB/Swiss-Prot for PHF21A Gene
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.