GW22821
Anti-TCOF1 antibody produced in chicken
affinity isolated antibody, buffered aqueous solution
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About This Item
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
WB
Citations:
4
biological source
chicken
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous solution
species reactivity
human
manufacturer/tradename
Genway 15-288-22821
technique(s)
western blot: suitable
NCBI accession no.
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... TCOF1(6949)
Application
Anti-TCOF1 antibody produced in chicken is suitable for western blotting analysis at a dilution of 1:500, for tissue or cell staining at a dilution of 1:200.
Biochem/physiol Actions
Treacle protein is a protein encoded by the TCOF1 gene in humans. Mutation in this gene is associated with Treacher Collins syndrome (TCS), the most common and well-known mandibulofacial dysostosis. It is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata and ear deformities.
Physical form
Solution in phosphate buffered saline containing 0.02% sodium azide.
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Storage Class
10 - Combustible liquids
wgk
WGK 1
flash_point_f
Not applicable
flash_point_c
Not applicable
ppe
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
Regulatory Information
低风险生物材料
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Chiara Conte et al.
BMC medical genetics, 12, 125-125 (2011-09-29)
Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics
Maria A Brehm et al.
Journal of cell science, 126(Pt 2), 437-444 (2012-12-04)
Fundamental to the life and destiny of every cell is the regulation of protein synthesis through ribosome biogenesis, which begins in the nucleolus with the production of ribosomal RNA (rRNA). Nucleolar organization is a highly dynamic and tightly regulated process;
Jan-Ulrich Schlump et al.
European journal of pediatrics, 171(11), 1611-1618 (2012-06-26)
Treacher Collins syndrome (TCS) is the most common and well-known mandibulofacial dysostosis caused by mutations in at least three genes involved in pre-rRNA transcription, the TCOF1, POLR1D and POLR1C genes. We present a severely affected male individual with TCS with
Michael Bowman et al.
European journal of human genetics : EJHG, 20(7), 769-777 (2012-02-10)
Treacher-Collins-Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata, and ear deformities that often lead to conductive deafness. A total of 182 patients with signs consistent with a diagnosis of
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