Recombinant Human TCOF1 protein, MYC/DDK-tagged

• Cat.No.: TCOF1-32H
• Product Overview: Recombinant Human TCOF1, transcript variant 3, fused with MYC/DDK tag at C-terminal was expressed in HEK293.

Specification

• Species: Human
• Source: HEK293
• Tag: Myc&DDK
• Description: This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene.
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 96.6 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: TCOF1 Treacher Collins-Franceschetti syndrome 1 [ Homo sapiens ]
• Official Symbol: TCOF1
• Synonyms: TCOF1; Treacher Collins-Franceschetti syndrome 1; treacle protein; treacle; Treacher Collins syndrome protein; nucleolar trafficking phosphoprotein; MFD1; TCS1
• Gene ID: 6949
• mRNA Refseq: NM_001008657
• Protein Refseq: NP_001008657
• MIM: 606847
• UniProt ID: Q13428
• Chromosome Location: 5q32
• Pathway: Ribosome biogenesis in eukaryotes, organism-specific biosystem; Ribosome biogenesis in eukaryotes, conserved biosystem
• Function: protein binding; transporter activity