PHF6 Antibody (H-4): sc-365237

PHF6 Antibody (H-4) is a mouse monoclonal IgG2a kappa light chain antibody that detects PHF6 protein of mouse, rat, and human origin by western blotting (WB), immunoprecipitation (IP), immunofluorescence (IF), immunohistochemistry with paraffin-embedded sections (IHCP), and enzyme-linked immunosorbent assay (ELISA). Anti-PHF6 antibody (H-4) is available in both non-conjugated and various conjugated forms, including agarose, horseradish peroxidase (HRP), phycoerythrin (PE), fluorescein isothiocyanate (FITC), and multiple Alexa Fluor® conjugates. PHF6, also known as PHD finger protein 6 or BORJ, is a 365 amino acid protein that plays a crucial role in transcriptional regulation and is predominantly located in the nucleus. PHF6 structure includes two PHD-type zinc fingers, which are essential for function as a transcriptional regulator, allowing interaction with specific DNA sequences and modulating gene expression. PHF6 function is particularly important in cellular responses to DNA damage, where phosphorylation occurs, likely by ATM or ATR kinases, to facilitate repair processes. Mutations in PHF6 are linked to Boerjeson-Forssman-Lehmann syndrome (BFLS), an X-linked recessive disorder characterized by a range of symptoms including intellectual disability, epilepsy, and metabolic issues, highlighting PHF6 significance in maintaining normal cellular function and development.

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PHF6 Antibody (H-4) References:

1. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.  |  Lower, KM., et al. 2002. Nat Genet. 32: 661-5. PMID: 12415272
2. An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.  |  BORJESON, M., et al. 1962. Acta Med Scand. 171: 13-21. PMID: 13871358
3. 1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.  |  Lower, KM., et al. 2004. Eur J Hum Genet. 12: 787-9. PMID: 15241480
4. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.  |  Vallée, D., et al. 2004. J Med Genet. 41: 778-83. PMID: 15466013
5. Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.  |  Crawford, J., et al. 2006. J Med Genet. 43: 238-43. PMID: 15994862
6. Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.  |  Voss, AK., et al. 2007. Gene Expr Patterns. 7: 858-71. PMID: 17698420
7. Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.  |  Carter, MT., et al. 2009. Am J Med Genet A. 149A: 246-50. PMID: 19161141
8. Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.  |  Mangelsdorf, M., et al. 2009. J Child Neurol. 24: 610-4. PMID: 19264739

Monoclonal antibodies for mammalian and non-mammalian protein targets represent essentially all targets covered by polyclonal antibodies. Over 8,300 of our antibodies are offered as ImmunoCruz^® conjugates which eliminates the need for a secondary antibody.

Santa Cruz Biotechnology antibodies have over 360,000 research citations. Anti-PHF6 Antibody (H-4) has 5 citations in a variety of scientific publications.

Primary antibodies like Anti-PHF6 Antibody (H-4) for mammalian target proteins are recommended for the detection of a range of mammalian species, primarily of mouse, rat and human species. Many mammalian antibodies are also ideal for veterinary research and reactive with ovine, porcine, caprine, feline, canine, bovine and equine protein targets. Santa Cruz Biotechnology primary monoclonal antibodies are suitable for laboratory research applications and are not intended for diagnostic or therapeutic use.

PHF6 Antibody (H-4) Specifications

Alternate Product Name: PHF6

Product Clone Name: H-4

Classification: Primary Antibody

Clonality: Monoclonal Antibody

Antibody Isotype: IgG_2a kappa light chain

Amino Acids:

Epitope Target: PHF6

Epitope Species: human

Product Reactivity/Detection: PHF6 isoforms 1 and 2

Species Reactivity/Detection: mouse, rat, human

Additional Mammalian Reactivity: N/A

Additional Non-Mammalian Reactivity: N/A

Applications: WB, IP, IF, IHC(P), ELISA

Vialing Information: Each vial contains 200 µg IgG_2a kappa light chain in 1.0 ml of PBS with < 0.1% sodium azide and 0.1% gelatin

Research Citations: 5 citations in various scientific publications

Available Conjugates/Forms for PHF6 Antibody (H-4): AC: Agarose, AF488: Alexa Fluor^® 488, AF546: Alexa Fluor^® 546, AF594: Alexa Fluor^® 594, AF647: Alexa Fluor^® 647, AF680: Alexa Fluor^® 680, AF790: Alexa Fluor^® 790, FITC: Fluoroscein, HRP: Horseradish Peroxidase, PE: Phycoerythrin