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this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS (显示 CDSN ELISA试剂盒) and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome.
we have uncovered evidence that the ID and CFA (显示 TBCA ELISA试剂盒) phenotypes are both caused by haploinsufficiency of a single gene, PHF21A, at 11p11.2.
Presumably serves as a scaffold protein (显示 HOMER1 ELISA试剂盒) in BHC (显示 NKX2-1 ELISA试剂盒) in neuronal as well as non-neuronal cells. Possible role in spermatogenesis.
the recovery of neurosecretion depends on the reciprocal level of BHC80 and REST, with BHC80 working as a negative modulator of REST repression
Presumably serves as a scaffold protein (显示 HOMER1 ELISA试剂盒) in BHC in neuronal as well as non-neuronal cells. Possible role in spermatogenesis.
Bhc80 is indispensable for the survival of neonatal pups.
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
, PHD finger protein 21A
, PHD finger protein 21A-like
, BRAF35-HDAC complex protein BHC80
, BRAF35/HDAC2 complex (80 kDa)
, Braf35/HDAC complex (Bhc)