Recombinant Human WD repeat-containing protein 72 (WDR72), partial

Code CSB-YP662140HU
MSDS
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Source Yeast
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Code CSB-EP662140HU
MSDS
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Source E.coli
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Code CSB-EP662140HU-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-BP662140HU
MSDS
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Source Baculovirus
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Code CSB-MP662140HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
WDR72
Uniprot No.
Alternative Names
AI2A3; FLJ38736; WD repeat-containing protein 72; WDR72; WDR72_HUMAN
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, pH 8.0
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
Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.
Gene References into Functions
  1. Based on whole exome sequencing in a large consanguineous amelogenesis imperfecta pedigree, an evidence for presence of a multi-exonic WDR72 deletion has been obtained. PMID: 27259663
  2. WDR72 has a major role in enamel mineralization, most notably during the maturation stage, suggesting a function involving endocytic vesicle trafficking, and the removal of amelogenin proteins. PMID: 25008349
  3. The rs11056571, p=1.68x10(-8); and rs2300290, p=1.09x10(-8)). rs719714 downstream of WDR72 was associated with executive functioning. PMID: 22126837
  4. Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth PMID: 21196691
  5. the 4 recently reported SNPs,located near BNC2, SORCS1, GSC and WDR72 loci, affecting glycemic control in type 1 diabetes had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1 SNP, findings do not rule out possible relationship with HbA1c PMID: 21294870
  6. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. WDR72 is a cytoplasmic protein that is critical for dental enamel formation. PMID: 20938048
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
  8. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20383146
  9. investigation of autosomal-recessive hypomaturation amelogenesis imperfecta (AI) in a consanguineous Pakistani family; a locus on chromosome 15q21.3 was identified; sequencing revealed a point mutation in the WDR72 gene PMID: 19853237
  10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 19875614

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Involvement in disease
Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3)
Subcellular Location
Cytoplasmic vesicle.
Database Links

HGNC: 26790

OMIM: 613211

KEGG: hsa:256764

STRING: 9606.ENSP00000353699

UniGene: Hs.122125

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