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Target intelligence / Profile preview
PHD finger protein 21A (PHF21A)
- Target
- PHF21A
- Molecular classification
- Histone modification, Transcription coregulator, Chromatin-binding protein, Other (component of multi-protein corepressor complex)
01
Overview
PHD finger protein 21A is a chromatin-binding transcription coregulator involved in the repression of neuron-specific gene expression in non-neuronal cells. It functions as a component of the BRAF35/HDAC2 (BHC) corepressor complex, mediating histone demethylation and deacetylation at specific promoters, particularly through interaction with unmethylated histone H3 lysine 4. PHF21A plays an essential regulatory role in neurodevelopment and craniofacial formation. Loss of PHF21A due to genetic deletion is linked to Potocki-Shaffer syndrome, intellectual disability, and related developmental disorders. PHF21A interacts with proteins including HDAC1, Histone deacetylase 2, HMG20B, and RCOR1, further emphasizing its central role in epigenetic regulation.
- Other names
- BHC80BHC80aBM-006KIAA1696BRAF35-HDAC complex protein BHC80BRAF35/HDAC2 complex (80 kDa)BRAF35/HDAC2 complex protein
02
Biological functions
Regulation of gene expression (transcriptional repression)Maintenance of histone demethylationChromatin organization and bindingRegulation of neuronal and craniofacial development
03
Disease associations
Intellectual disabilityAutism spectrum disorderCraniofacial dysmorphismPotocki-Shaffer syndromeDevelopmental delay
04
Safety considerations
Mutations/deletions cause significant developmental toxicity, including intellectual disability, craniofacial defects, and syndromic disease
05
Biomarkers
Deletion or mutation as a diagnostic marker in genetic testing for Potocki-Shaffer syndrome and related neurodevelopmental disorders
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