PHF6 Antibody

說明書

中文名稱：

PHF6兔多克隆抗體
貨號：

CSB-PA017917GA01HU
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.：

Q8IWS0
基因名：

PHF6
別名：

AC004383.6 antibody; BFLS antibody; BORJ antibody; CENP 31 antibody; Centromere protein 31 antibody; MGC14797 antibody; OTTHUMP00000024063 antibody; PHD finger protein 6 antibody; PHD like zinc finger protein antibody; PHD-like zinc finger protein antibody; Phf6 antibody; PHF6_HUMAN antibody
宿主：

Rabbit
反應種屬：

Human,Mouse
免疫原：

Human PHF6
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
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) 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：

Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.
基因功能參考文獻：
1. EZH2 mutations coexisted with mutations of NOTCH1, IL7R, and PHF6 in the two Adult T-cell Acute Lymphoblastic Leukemia patients, and they responded poorly to chemotherapy and experienced difficult clinical histories and inferior outcomes PMID: 28747286
2. PHF6 mutations occur at a low frequency in pediatric acute myeloid leukemia in both female and male patients PMID: 27885656
3. PHF6 defects most likely result in their loss of function and have a substantial effect on the evolution into the aggressive types of myeloid neoplasms, associated with other concomitant genetic defects including RUNX1 mutations PMID: 27479181
4. The mutations of the gene encoding plant homeodomain (PHD)-like finger protein 6 (PHF6) contribute to the pathogenesis of the X-linked intellectual disability disorder Borjeson-Forssman-Lehmann syndrome. PMID: 27633282
5. PHF6 localizes to the sub-nucleolar fibrillar center where it binds to rDNA-coding sequences. PHF6 mediates the overall levels of ribosome biogenesis within a cell. PMID: 27165002
6. Our results suggest that PHF6 may function as an oncogenic factor in several types of cancer. We also hypothesize that PHF6 may also play its role in a tissue-specific manner. Our findings suggest further investigations regarding the exact role of PHF6 in tumor types. PMID: 26561469
7. Female phenotypes of Borjeson-Forssman-Lehmann syndrome patients with PHF6 mutations PMID: 25099957
8. Our RBBP4-PHF6 complex structure provides insights into the molecular basis of PHF6-NuRD complex interaction and implicates a role for PHF6 in chromatin structure modulation and gene regulation. PMID: 25601084
9. Phf6 is a "lineage-specific" cancer gene that plays opposing roles in developmentally distinct hematopoietic malignancies. PMID: 25737277
10. The PHF6 tumor suppressor gene was targeted in acute lymphoblastic leukemia by microRNA-128-3p. PMID: 24895337
11. Our report confirms that PHF6 loss in females results in a recognizable phenotype overlapping with Coffin-Siris syndrome and distinct from Borjeson-Forssman-Lehmann syndrome. PMID: 24380767
12. Recurrent microdeletion was detected in Xq26.3, causing loss of PHF6 expression, a potential tumor suppressor gene, and the miR-424, which is involved in the development of acute myeloid leukemia. PMID: 24674452
13. The findings show that de novo mutations in PHF6 in females result in a recognisable phenotype which overlap with Borjeson-Forssman-Lehmann syndrome but also has additional distinct features, thus adding a new facet to this disorder. PMID: 24092917
14. these data support the hypothesis that PHF6 may function as a transcriptional repressor using its ePHD domains binding to the promoter region of its repressed gene PMID: 24554700
15. Data suggest that mutations of PHF6 are associated with chronic myeloid leukemia (CML) progression. PMID: 22928734
16. These results reveal that the key function of PHF6 is involved in regulating rRNA synthesis, which may contribute to its roles in cell cycle control, genomic maintenance, and tumor suppression. PMID: 23229552
17. PHF6 interacts with the nucleosome remodeling and deacetylation complex and is localized primarily in the nucleoplasm and nucleolus. PMID: 22720776
18. in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214. PMID: 21880637
19. Our data suggest that PHF6 mutation might play a role in tumorigenesis not only of T-cell acute lymphoblatic leukemia, but also acute myelogenous leukemia and hepatocellular carcinoma. PMID: 21736506
20. PHF6 as a tumor suppressor gene mutated in acute myeloid leukemias (AML) and extend the role of this X-linked tumor suppressor gene in the pathogenesis of hematologic tumors. PMID: 21030981
21. Borjeson-Forssman-Lehmann syndrome (BFLS) may represent a cancer predisposition syndrome and that mutations of PHF6 contribute to T-cell acute lymphoblastic leukemia. PMID: 20806366
22. these results identify PHF6 as a new X-linked tumor suppressor in T-ALL and point to a strong genetic interaction between PHF6 loss and aberrant expression of TLX transcription factors in the pathogenesis of this disease. PMID: 20228800
23. A novel, widely expressed zinc-finger (plant homeodomain[PHD]-like finger) gene had 8 different missense and truncation mutations in 7 familial and 2 sporadic cases of BFLS (p. 661). PMID: 12415272
24. ...mutations within a novel widely expressed zinc-finger gene (PHF6) have been described in nine families with Borjesson-Forssman-Lehmann syndrome... p. 1208 PMID: 14714741
25. The gene, PHF6, implicated in the Borjeson-Forssman-Lehmann syndrome has recently been identified. p. 1295 PMID: 14714754
26. A study of 9 families with PHF6 muations revealed that the phenotype is milder and more variable than previously described and evolves with age; seven missense mutations and two truncation mutations were identifed PMID: 14756673
27. By finding a PHF-6 mutation in a family with Borjeson-Forssman-Lehmann syndrome it was speculated that there is a mutational hot spot in the gene. PMID: 15241480
28. novel mutation results in exon skipping and mild Borjeson-Forssman-Lehmann syndrome PMID: 15466013
29. Success of PHF6 screening in males suspected of having Borjeson-Forssman-Lehmann syndrome is markedly increased if there is a positive family history and/or skewed X-inactivation is found in the mother. PMID: 15994862
30. we describe a novel mutation that changes a residue within the first plant homeodomain zinc finger motif of PHF6 in a family with classical features of Borjeson-Forssman-Lehmann syndrome PMID: 19264739
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相關疾病：

Boerjeson-Forssman-Lehmann syndrome (BFLS)
亞細胞定位：

Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore. Note=Nuclear, it particularly localizes to the nucleolus.
組織特異性：

Ubiquitously expressed.
數據庫鏈接：

HGNC: 18145

OMIM: 300414

KEGG: hsa:84295

STRING: 9606.ENSP00000329097

UniGene: Hs.356501

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