Full Product Name
PHF6 antibody
Product Synonym Names
Polyclonal PHF6; Anti-PHF6; PHF 6; BORJ; PHF-6; PHF6; PHD finger protein 6; MGC14797
Product Gene Name
anti-PHF6 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q8IWS0
Species Reactivity
Human, Dog, Rat, Mouse, Chicken, Bovine
Form/Format
Lyophilized powder. Add 100 ul of distilled water. Final antibody concentration is 1 mg/ml in PBS buffer.
Concentration
1 mg/ml (lot specific)
Biological Significance
PHF6 is a member of the plant homeodomain (PHD)-like finger (PHF) family. PHF6 is 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 its gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS).
Immunogen
PHF6 antibody was raised in rabbit using the middle region of PHF6 as the immunogen
Preparation and Storage
Store at 4 degree C, following reconstitution, aliquot and store at -20 degree C. Avoid repeated freeze-thaw cycles.
Other Notes
Small volumes of anti-PHF6 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-PHF6 antibody
Rabbit polyclonal PHF6 antibody
Product Categories/Family for anti-PHF6 antibody
Signal Transduction
Applications Tested/Suitable for anti-PHF6 antibody
Western Blot (WB)
Application Notes for anti-PHF6 antibody
WB: 1.25 ug/ml
Western Blot (WB) of anti-PHF6 antibody
PHF6 antibody (MBS833392) used at 0.2-1 ug/ml to detect target protein.
NCBI/Uniprot data below describe general gene information for PHF6. It may not necessarily be applicable to this product.
NCBI Accession #
NP_115711
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NCBI GenBank Nucleotide #
NM_032335.3
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UniProt Primary Accession #
Q8IWS0
[Other Products]
UniProt Secondary Accession #
Q5JRC7; Q5JRC8; Q96JK3; Q9BRU0; A8K230; B4E0G4; D3DTG3; E9PC97[Other Products]
UniProt Related Accession #
Q8IWS0[Other Products]
Molecular Weight
37,628 Da
NCBI Official Full Name
PHD finger protein 6 isoform 2
NCBI Official Synonym Full Names
PHD finger protein 6
NCBI Official Symbol
PHF6 [Similar Products]
NCBI Official Synonym Symbols
BFLS; BORJ; CENP-31
[Similar Products]
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 [Similar Products]
UniProt Synonym Gene Names
CENP-31; KIAA1823 [Similar Products]
UniProt Entry Name
PHF6_HUMAN
NCBI Summary for PHF6
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 Comments for PHF6
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.
Protein type: Unknown function; Nucleolus
Chromosomal Location of Human Ortholog: Xq26.3
Cellular Component: nucleoplasm; nucleolus; nucleus
Molecular Function: tubulin binding; ribonucleoprotein binding; protein binding; enzyme binding; DNA binding; zinc ion binding; histone binding; histone deacetylase binding; phosphoprotein binding
Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent
Disease: Borjeson-forssman-lehmann Syndrome
Research Articles on PHF6
1. Our RBBP4-PHF6 complex structure provides insights into the molecular basis of PHF6-NuRD complex interaction and implicates a role for PHF6 in chromatin structure modulation and gene regulation.
Precautions
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Disclaimer
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