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Anti-PHF6 Antibody (CAB18149)

SKU:
CAB18149
Product Type:
Antibody
Reactivity:
Human
Mouse
Rat
Host Species:
Rabbit
Isotype:
IgG
Research Area:
Epigenetics and Nuclear Signaling
€139 - €419
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Description

system_update_altDatasheetsystem_update_altMSDS
Antibody Name:Anti-PHF6 Antibody
Antibody SKU:CAB18149
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:Recombinant protein of human PHF6.
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:Rat thymus
Immunogen:Recombinant protein of human PHF6.
Purification Method:Affinity purification
Storage Buffer:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:84295
Uniprot:Q8IWS0
Cellular Location:
Calculated MW:
Observed MW:41kDa
Anti-PHF6 Antibody (CAB18149)Western blot - PHF6 Polyclonal Antibody (CAB18149)
Synonyms:BFLS, BORJ, CENP-31, PHF6
Background:
UniProt Protein Function:PHF6: May play a role in transcriptional regulation. Defects in PHF6 are the cause of Boerjeson-Forssman- Lehmann syndrome (BFLS); also known as Boerjeson- Forssman syndrome (BORJ). BFLS is a X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears. 2 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Protein type:Nucleolus; Unknown function

Chromosomal Location of Human Ortholog: Xq26.2

Cellular Component: nucleolus; nucleoplasm; nucleus

Molecular Function:enzyme binding; histone binding; histone deacetylase binding; phosphoprotein binding; protein binding; ribonucleoprotein binding; RNA binding; tubulin binding

Disease: Borjeson-forssman-lehmann Syndrome

NCBI Summary:This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
UniProt Code:Q8IWS0
NCBI GenInfo Identifier:42559482
NCBI Gene ID:84295
NCBI Accession:Q8IWS0.1
UniProt Secondary Accession:Q8IWS0,Q5JRC7, Q5JRC8, Q96JK3, Q9BRU0, A8K230, B4E0G4 D3DTG3, E9PC97,
UniProt Related Accession:Q8IWS0
Molecular Weight:37,628 Da
NCBI Full Name:PHD finger protein 6
NCBI Synonym Full Names:PHD finger protein 6
NCBI Official Symbol:PHF6  
NCBI Official Synonym Symbols:BFLS; BORJ; CENP-31  
NCBI Protein Information:PHD finger protein 6
UniProt Protein Name:PHD finger protein 6
UniProt Synonym Protein Names:PHD-like zinc finger protein
Protein Family:PHD finger protein
UniProt Gene Name:PHF6  

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