PHF21A
Function
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.
Involvement in disease
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
IDDBCS
An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit-hyperactivity disorder.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in brain (PubMed:31649809). Expressed at lower level in other tissues, including heart, kidney, liver, lung and skeletal muscle (PubMed:31649809). Abundantly expressed in fetal brain (PubMed:31649809).
Cellular localization
- Nucleus
Alternative names
BHC80, KIAA1696, BM-006, PHF21A, PHD finger protein 21A, BHC80a, BRAF35-HDAC complex protein BHC80