Recombinant Human PHF6 Protein, His-tagged

• Cat.No.: PHF6-436H
• Product Overview: Recombinant Human PHF6, transcript variant 3, fused with His tag at N-terminal was expressed in E. coli.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• Description: 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.
• Form: 25mM Tris, pH8.0, 150mM NaCl, 10% glycerol, 1 % Sarkosyl.
• Molecular Mass: 35.1 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: PHF6[ Homo sapiens ]
• Official Symbol: PHF6
• Synonyms: PHF6; BFLS, BORJ, Borjeson Forssman Lehmann syndrome; CENP 31; centromere protein 31; KIAA1823; MGC14797
• Gene ID: 170932
• mRNA Refseq: NM_032335
• Protein Refseq: NP_115711
• MIM: 300414
• UniProt ID: Q8IWS0