TCOF1 Antibody

說明書

中文名稱：

TCOF1兔多克隆抗體
貨號：

CSB-PA023319GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q13428
基因名：

TCOF1
別名：

Mandibulofacial dysostosis antibody; MFD1 antibody; Nucleolar trafficking phosphoprotein antibody; TCOF 1 antibody; TCOF_HUMAN antibody; TCOF1 antibody; TCS antibody; TCS1 antibody; Treacher Collins Franceschetti syndrome 1 antibody; Treacher Collins syndrome antibody; Treacher Collins syndrome protein antibody; Treacle antibody; Treacle protein antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Human TCOF1
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IHC,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification.
基因功能參考文獻：
1. Data indicate that Treacher Collins-Franceschetti syndrome 1 protein (TCOF1) was the main disease-causing gene for the Chinese Treacher Collins syndrome (TCS) population and its mutation spectrum. PMID: 29230583
2. Performed mutational analysis of TCOF1, GSC, and HOXA2 to determine the mutational features of the 3 genes in Chinese patients with Treacher Collins syndrome. PMID: 27526242
3. The analysis results showed that the Tcof1-related genes were enriched in various biological processes, including cell proliferation, apoptosis, cell cycle, differentiation, and migration. PMID: 27300466
4. We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. PMID: 25790162
5. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. PMID: 24603435
6. findings identify TCOF1 as a DDR factor that could cooperate with ATM and NBS1 to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage. PMID: 25512513
7. we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A has been identified PMID: 23695276
8. Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS PMID: 24690222
9. Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks. PMID: 25064736
10. TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients. PMID: 23838542
11. 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. PMID: 22729243
12. 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins G in exon 24 in the TCOF1 gene. PMID: 21848650
13. Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome. PMID: 22317976
14. Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases of Treacher Collins syndrome. PMID: 21951868
15. We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1 PMID: 20003452
16. The identification of a novel pathogenic missense change in exon 2 of the TCOF1 gene suggests that a functionally important domain of treacle exists near the N-terminus. PMID: 12114482
17. Patients with Goldenhar, Nager, or Miller syndromes may resemble Treacher-Collins, but are unlikely to have mutations at this locus. PMID: 12210332
18. Identification of 231-nucleotide(nt) exon 6A and 108-nt exon 16A and isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A. PMID: 15019983
19. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS (treacher collins syndrome). PMID: 15039977
20. Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF). PMID: 15249688
21. A novel mutation within exon 6A is associated with Treacher Collins syndrome. PMID: 15832313
22. The -346T allele impairs DNA-binding to the YY1 transcription factor, and this promoter variant represents a candidate allele to explain the clinical variability in patients bearing Treacher Collins syndrome. PMID: 16102917
23. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. PMID: 16801042
24. These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms. PMID: 17786119
25. TCOF1 may influence risk of cleft palate through maternal transmission. PMID: 18688869
26. 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. PMID: 19027870
27. The novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop). PMID: 19067896
28. central repeated domain of treacle binds with RNA polymerase I, while that the treacle C-terminus is involved in rDNA promoter recognition and UBF recruitment. PMID: 19527688
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相關疾病：

Treacher Collins syndrome 1 (TCS1)
亞細胞定位：

Nucleus, nucleolus.
數據庫鏈接：

HGNC: 11654

OMIM: 154500

KEGG: hsa:6949

STRING: 9606.ENSP00000421655

UniGene: Hs.519672

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