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TCOF1 Full-Length MS Protein Standard

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Product Description


NameTCOF1 Full-Length MS Protein Standard
Cat#CPFL303644
Protein NameTreacher Collins-Franceschetti syndrome 1
SymbolTCOF1
SynonymsMFD1; TCS; TCS1; treacle
AccessionNM_001008657
Cytogenetic5q32
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionTCOF1 Full-Length MS Protein Standard (NP_001008657), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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.

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