BHC80 is 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
Immunogen
PHF21A (NP_057705, 331 a.a. ~ 430 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
The gene PHF21A (PHD finger protein 21A) is also referred to as BHC80 and forms a component of the BRAF-histone deacetylase complex, which is involved in the repression of target-gene transcription. The encoded protein is found to be essential for normal brain development and cognitive function. Disruption of this gene has been found to be associated with developmental delay and craniofacial anomalies that are seen in patients with Potocki–Shaffer syndrome (PSS).
Physical form
Solution in phosphate buffered saline, pH 7.4
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim HG
American Journal of Human Genetics, 91, 56-72 (2012)
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