Recombinant Human TCOF1

• Cat.No.: TCOF1-31607TH
• Product Overview: Recombinant fragment of Human Treacher Collins syndrome protein with N-terminal proprietary tag.Mol Wt 34.54 kDa inclusive of tag.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: Non
• ProteinLength: 81 amino acids
• 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.
• Molecular Weight: 34.540kDa inclusive of tags
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: AEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELGRKRKAEEDAALQAKKTRVSDPI
• Sequence Similarities: Contains 1 LisH domain.

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
• Gene ID: 6949
• mRNA Refseq: NM_000356
• Protein Refseq: NP_000347
• MIM: 606847
• Uniprot ID: Q13428
• Chromosome Location: 5q31.3-q33.3
• Pathway: Ribosome biogenesis in eukaryotes, organism-specific biosystem; Ribosome biogenesis in eukaryotes, conserved biosystem
• Function: protein binding; transporter activity