Aliases for PHF21A Gene
External Ids for PHF21A Gene
Previous GeneCards Identifiers 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 Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures and Potocki-Shaffer Syndrome. Among its related pathways are Chromatin organization and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is PHF21B.
UniProtKB/Swiss-Prot Summary 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.