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Mouse Anti-PHF6 Recombinant Antibody (6H5) (CBMAB-P1667-YC)

Provided herein is a Mouse monoclonal antibody against Human PHD Finger Protein 6. The antibody can be used for immunoassay techniques, such as WB, IP, ICC, IF.
See all PHF6 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
6H5
Antibody Isotype
IgG
Application
WB, IP, ICC, IF

Basic Information

Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
PHD finger protein 6
Introduction
PHF6 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 cognitive disability, 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.
Entrez Gene ID
84295
UniProt ID
Q8IWS0
Alternative Names
PHD Finger Protein 6; PHD-Like Zinc Finger Protein; Centromere Protein 31; CENP-31; Borjeson-Forssman-Lehmann Syndrome; KIAA1823; BFLS; BORJ;
Function
Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.
Biological Process
Blastocyst hatchingIEA:Ensembl
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Nucleus, nucleolus
Chromosome, centromere, kinetochore
Nuclear, it particularly localizes to the nucleolus.
Involvement in disease
Boerjeson-Forssman-Lehmann syndrome (BFLS):
An 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.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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