Recombinant Human WD repeat domain phosphoinositide-interacting protein 4(WDR45)

Code CSB-EP852773HU
Size US$2466
  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 90% as determined by SDS-PAGE.
Target Names WDR45
Uniprot No. Q9Y484
Research Area Cell Biology
Alternative Names
WDR45; WDRX1; WDRXI4; WIPI4; JM5; WD repeat domain phosphoinositide-interacting protein 4; WIPI-4; WD repeat-containing protein 45
Species Homo sapiens (Human)
Source E.coli
Expression Region 1-360aa
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 66.9kDa
Protein Length Full Length
Tag Info N-terminal GST-tagged
Form Liquid or 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 If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is 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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
and FAQs
Protein 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.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

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Target Background

Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Binds phosphatidylinositol 3-phosphate (PtdIns3P). Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes. Together with WIPI1, promotes ATG2 (ATG2A or ATG2B)-mediated lipid transfer by enhancing ATG2-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes. Probably recruited to membranes through its PtdIns3P activity.
Gene References into Functions
  1. WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy PMID: 28561066
  2. This study showed that Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. PMID: 29171013
  3. This study showed that WDR45 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
  4. This study showed the WDR45 mutation complicated by infantile spasms. PMID: 28551038
  5. A rare male patient is reported with mutation in WDR45 and early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase. PMID: 28711740
  6. Inherited WDR45 variants are possible, albeit rare. Hemizygous germline variants in males can be viable, but likely result in a more severe NBIA phenotype. PMID: 26577041
  7. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy. PMID: 27030146
  8. WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration. PMID: 26481852
  9. It is an autophagy gene and its mutation causes SENDA/BPAN(beta-propeller protein associated neurodegeneration). (review) PMID: 27349079
  10. Genetic analysis for WDR45 revealed that she had a splice site mutation PMID: 27349085
  11. C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood. PMID: 25592411
  12. An observed mutation of WDR45 (c.C868T:p.Q290X) seems to cause beta-propeller protein-associated neurodegeneration. PMID: 25263061
  13. Mutations in WDR45 were associated with neurodegeneration with brain iron accumulation and neuropsychiatric syndromes. PMID: 24368176
  14. Mutations in WDR45 are associated with brain iron accumulation and X-linked disorders of neurodegeneration. PMID: 23687123
  15. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. PMID: 23435086
  16. we have identified mutations in WDR45 as a cause of a distinctive X-linked dominant form of neurodegeneration with brain iron accumulation (NBIA) PMID: 23176820

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Involvement in disease Neurodegeneration with brain iron accumulation 5 (NBIA5)
Subcellular Location Preautophagosomal structure. Cytoplasm.
Protein Families WD repeat SVP1 family
Tissue Specificity Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors.
Database Links

HGNC: 28912

OMIM: 300526

KEGG: hsa:11152

STRING: 9606.ENSP00000348848

UniGene: Hs.632807

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