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GW22821

Sigma-Aldrich

Anti-TCOF1 antibody produced in chicken

affinity isolated antibody, buffered aqueous solution

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

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.

NP_000347.1

UniProt accession no.

Q13428

shipped in

wet ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... TCOF1(6949)

Immunogen

Immunogen Sequence: GI # 4507411, sequence 4-193
Recombinant treacle

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_germany

WGK 1

flash_point_f

Not applicable

flash_point_c

Not applicable

ppe

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

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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
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

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