Recombinant Human DNA-binding protein RFX6 (RFX6), partial

Code CSB-YP812809HU
MSDS
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Source Yeast
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Code CSB-EP812809HU
MSDS
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Source E.coli
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Code CSB-EP812809HU-B
MSDS
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP812809HU
MSDS
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Source Baculovirus
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Code CSB-MP812809HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
RFX6
Uniprot No.
Alternative Names
RFX6; RFXDC1; DNA-binding protein RFX6; Regulatory factor X 6; Regulatory factor X domain-containing protein 1
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Transcription factor required to direct islet cell differentiation during endocrine pancreas development. Specifically required for the differentiation of 4 of the 5 islet cell types and for the production of insulin. Not required for pancreatic PP (polypeptide-producing) cells differentiation. Acts downstream of NEUROG3 and regulates the transcription factors involved in beta-cell maturation and function, thereby restricting the expression of the beta-cell differentiation and specification genes, and thus the beta-cell fate choice. Activates transcription by forming a heterodimer with RFX3 and binding to the X-box in the promoter of target genes. Involved in glucose-stimulated insulin secretion by promoting insulin and L-type calcium channel gene transcription.
Gene References into Functions
  1. RFX6 heterozygous protein truncating variants cause reduced penetrance maturity-onset diabetes of the young (MODY). PMID: 29026101
  2. study reports two individuals each with compound heterozygous RFX6 nonsense mutations and an intestinal phenotype consistent with Mitchell-Riley syndrome, but with onset of diabetes in childhood rather than in the first 2 weeks of life PMID: 26264437
  3. association of the THADA, FOXP4, GPRC6A/RFX6 and 8q24 genes with prostate cancer in Asian populations. PMID: 26537068
  4. RFX6 controls insulin gene transcription, insulin content, and secretion by regulation of Ca(2+)-channel genes. PMID: 25497100
  5. rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus. PMID: 23803082
  6. A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding. PMID: 24390282
  7. Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations PMID: 22662242
  8. RFX6 mutation is responsible for neonatal diabetes syndrome. PMID: 21965172
  9. Therefore, RFX6 appears to have a pivotal role in the maintenance of the phenotype of the beta-cells in addition to their development. PMID: 21750414
  10. In early development Rfx6 plays a broad role, being essential for development of most anterior endodermal organs. At later stages however, Rfx6 function is restricted to endocrine cells. PMID: 21215266
  11. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20676098
  12. studies demonstrate a unique position for Rfx6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans PMID: 20148032
  13. RFX6 is a winged helix transcription factor expressed almost exclusively in the pancreatic islets. PMID: 18673564

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Involvement in disease
Mitchell-Riley syndrome (MTCHRS)
Subcellular Location
Nucleus.
Protein Families
RFX family
Tissue Specificity
Expressed in pancreas. Expressed in pancreatic beta-cells (insulin-positive cells) and alpha-cells (glucagon-positive cells) (at protein level). Specifically expressed in pancreas, small intestine and colon. Expressed in endocrine cells in the islets.
Database Links

HGNC: 21478

OMIM: 612659

KEGG: hsa:222546

STRING: 9606.ENSP00000332208

UniGene: Hs.352276

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