Treacher Collins syndrome protein (TCOF1) (NM_001008657) Human Recombinant Protein
Selected Variant
PH40235M5
Size: 20 µg
Product Specifications
Background
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. [provided by RefSeq, Sep 2008]
Overview
Recombinant protein of human Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 3
Synonyms
MFD1; TCS; TCS1; treacle
Gene ID
6949
UniProt
Q13428
Accession Number mRNA
NM_001008657
Chromosomal Location
5q32-q33.1
Expression System
HEK293T
Tag
C-Myc/DDK
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
Function
Druggable Genome, Stem cell - Pluripotency
Molecular Weight
96.6 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
TCOF1
Species
Human
Protein ID
NP_001008657
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/6949
Uniprot URL
https://www.uniprot.org/uniprot/Q13428
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_001008657
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_001008657
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