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Treacher Collins-Franceschetti Syndrome 1 Proteins (TCOF1)

TCOF1 encodes a nucleolar protein with a LIS1 homology domain. Additionally we are shipping TCOF1 Antibodies (36) and TCOF1 Kits (3) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
Rat TCOF1 TCOF1 291571  
TCOF1 21453 O08784
TCOF1 6949 Q13428
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Top TCOF1 Proteins at antibodies-online.com

Showing 4 out of 4 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 49 to 54 Days
$13,567.94
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 49 to 54 Days
$13,567.94
Details
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
$405.71
Details
HOST_Human Human Un-conjugated   20 μg Log in to see 9 to 11 Days
$785.40
Details

TCOF1 Proteins by Origin and Source

Origin Expressed in Conjugate
Mouse (Murine)

Human , ,
,

More Proteins for Treacher Collins-Franceschetti Syndrome 1 (TCOF1) Interaction Partners

Mouse (Murine) Treacher Collins-Franceschetti Syndrome 1 (TCOF1) interaction partners

  1. Tcof1 acts as a modifier of Pax3 (show PAX3 Proteins) during enteric nervous system development.

  2. identified Tcof1 as an important regulator of vagal neural crest cells (NCC (show SLC12A3 Proteins)) development and enteric nervous system formation; Tcof1 loss-of-function results in a deficiency of vagal NCC (show SLC12A3 Proteins) and their delayed colonization of the gut (show GUSB Proteins) during early embryogenesis, which mimics the early stages of Hirschsprung's disease

  3. our research has therefore identified Treacle and as novel in vivo regulators of spindle fidelity, mitotic progression, and proliferation in the maintenance and localization of neural progenitor cells.

  4. Loss-of-function mutation in Tcof1 results in defects in middle ear postnatal development and conductive hearing loss.

  5. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF (show UBTF Proteins)).

  6. Data show that Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma (show ARHGEF16 Proteins) cells.

  7. Analysis of RNA isolated from wild-type and Tcof1+/- heterozygous mice embryos from strains that exhibit a lethal phenotype showed significant reduction in 2'-O-methylation at nucleotide C463 of 18S rRNA

  8. A minimal promoter fragment from -253 to +43 bp (show EIF4EBP1 Proteins) directs constitutive expression in both cell types, and dual regulation of Tcof1 appears to be through differential repression of this minimal promoter.

  9. It has been hypothesized that mutations in Tcof1 disrupt ribosome biogenesis to a degree that is insufficient to meet the proliferative needs of the neuroepithelium and neural crest cells.

Human Treacher Collins-Franceschetti Syndrome 1 (TCOF1) interaction partners

  1. Autosomal recessive POLR1D (show POLR1D Proteins) mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

  2. findings identify TCOF1 as a DDR (show DDR1 Proteins) factor that could cooperate with ATM (show ATM Proteins) and NBS1 (show NBN Proteins) to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.

  3. we describe for the first time, two patients with MFD (show SCYL1 Proteins) and ID and for whom a deletion encompassing TCOF1 and CAMK2A (show CAMK2A Proteins) has been identified

  4. Mutations in TCOF1, POLR1C (show POLR1C Proteins) and POLR1D (show POLR1D Proteins) have all been implicated in causing TCS

  5. Treacle-mediated NBS1 (show NBN Proteins) recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks.

  6. TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients.

  7. Presents the case of a male with Treacher Collins syndrome with a heterozygous de novo frameshift mutation within the TCOF1 gene (c.790_791delAG,p.Ser264GlnfsX7), as well as findings from three other individuals from two families with the same mutation.

  8. 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins (show INS Proteins) G in exon 24 in the TCOF1 gene.

  9. Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome.

  10. We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1

TCOF1 Protein Profile

Protein Summary

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.

Gene names and symbols associated with TCOF1

  • Treacher Collins-Franceschetti syndrome 1 (Tcof1)
  • Treacher Collins-Franceschetti syndrome 1 (TCOF1)
  • Treacher Collins-Franceschetti syndrome 1 (LOC100226238)
  • Treacher Collins-Franceschetti syndrome 1 (LOC100341764)
  • Treacher Collins Franceschetti syndrome 1, homolog (Tcof1)
  • AA408847 protein
  • AW209012 protein
  • MFD1 protein
  • TCOF1 protein
  • TCS1 protein
  • treacle protein

Protein level used designations for TCOF1

Treacher Collins Franceschetti syndrome 1, homolog , Treacher Collins-Franceschetti syndrome 1 homolog , treacle protein , tcof1 gene exons 14-15-16a-16b , tcof1 gene exons 7-13 , treacle , Treacher Collins-Franceschetti syndrome 1 , treacle protein-like , treacher Collins syndrome protein homolog , Treacher Collins syndrome protein , nucleolar trafficking phosphoprotein

GENE ID SPECIES
291571 Rattus norvegicus
403592 Canis lupus familiaris
416276 Gallus gallus
471696 Pan troglodytes
513591 Bos taurus
664735 Macaca mulatta
100060348 Equus caballus
100226238 Taeniopygia guttata
100341764 Oryctolagus cuniculus
100435631 Pongo abelii
100471510 Ailuropoda melanoleuca
100591432 Nomascus leucogenys
21453 Mus musculus
6949 Homo sapiens
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