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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)