PHD finger protein 6 (PHF6) (NM_032458) Human Recombinant Protein

CAT#: TP760422

Purified recombinant protein of Human PHD finger protein 6 (PHF6), transcript variant 2, full length, with N-terminal HIS tag, expressed in E.Coli, 50ug


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USD 215.00

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Size
    • 50 ug

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Specifications

Product Data
Species Human
Expression Host E. coli
Expression cDNA Clone or AA Sequence
A DNA sequence encoding human full-length PHF6
Tag N-His
Predicted MW 41.1 kDa
Concentration >50 ug/mL as determined by microplate BCA method
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer 25mM Tris, pH8.0, 150 mM NaCl, 10% glycerol, 1 % Sarkosyl
Storage Store at -80°C.
Stability Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
Reference Data
RefSeq NP_115834
Locus ID 84295
UniProt ID Q8IWS0
Cytogenetics Xq26.2
Refseq Size 4772
Refseq ORF 1095
Synonyms BFLS; BORJ; CENP-31
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 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. [provided by RefSeq, Jun 2010]
Protein Families Druggable Genome, Transcription Factors

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