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About This Item
UNSPSC Code:
12352203
NACRES:
NA.41
biological source
mouse
Quality Level
conjugate
unconjugated
antibody form
purified immunoglobulin
antibody product type
primary antibodies
clone
5A6, monoclonal
form
buffered aqueous solution
species reactivity
human
technique(s)
indirect ELISA: suitable
western blot: 1-5 μg/mL
isotype
IgG1κ
GenBank accession no.
UniProt accession no.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... PHF21A(51317)
General description
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.
Sequence
KQTVKSHTETDEKQTESRTITPPAAPKPKREENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNSTMHPGTRKRA
Sequence
KQTVKSHTETDEKQTESRTITPPAAPKPKREENPQKLAFMVSLGLVTHDHLEEIQSKRQERKRRTTANPVYSGAVFEPERKKSAVTYLNSTMHPGTRKRA
Biochem/physiol Actions
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
Legal Information
GenBank is a registered trademark of United States Department of Health and Human Services
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Storage Class Code
10 - Combustible liquids
WGK
nwg
Flash Point(F)
Not applicable
Flash Point(C)
Not applicable
Personal Protective Equipment
dust mask type N95 (US), Eyeshields, Gloves
Regulatory Information
常规特殊物品
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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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