Recombinant Human Protocadherin-15 (PCDH15), partial

Code CSB-YP853490HU
MSDS
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Source Yeast
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Code CSB-EP853490HU
MSDS
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Source E.coli
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Code CSB-EP853490HU-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-BP853490HU
MSDS
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Source Baculovirus
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Code CSB-MP853490HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
PCDH15
Uniprot No.
Alternative Names
PCDH15; USH1F; Protocadherin-15
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
Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.
Gene References into Functions
  1. Novel 4658delT PCDH15 mutation was identified in a family with nonsyndromic hearing loss. PMID: 29692870
  2. rs2045145 associated with more European female facial profile PMID: 29301965
  3. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. PMID: 27440999
  4. PCDH15 polymorphism is associated with extraversion. PMID: 27918536
  5. Results present structures of a protocadherin-15 fragment featuring a non-canonical linker region that exhibits increased flexibility without compromising mechanical strength. PMID: 28238533
  6. This study confirms that genetic variations in PCDH15 modify the susceptibility to noise-induced hearing loss development in humans. PMID: 28292353
  7. Results uncovered a novel interaction between MYO3A and PCDH15 shedding new light on the function of myosin IIIA at stereocilia tips. PMID: 26841241
  8. no statistically significant association between any rare, heterozygous PCDH15 point variants and schizophrenia or autism spectrum disorders was found PMID: 27058588
  9. PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1 PMID: 26279247
  10. The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23. PMID: 25930172
  11. PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients. PMID: 26166082
  12. PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly PMID: 25307757
  13. Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility t onoise-induced hearing loss. PMID: 25462672
  14. Patients lacking PCDH15-CD2 isoform are profoundly deaf. PMID: 24940003
  15. Single nucleotide polymorphisms spanning a 9-kb region centered on exon 11 of the protocadherin 15 ( PCDH15 ) gene were found to be associated with irritable bowel syndrome in Australian, United States, and Swedish populations. PMID: 24797007
  16. Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene. PMID: 22690115
  17. Seven different point mutations, five novel, were detected in PCDH15 gene in Spanish patients with Usher syndrome type I. PMID: 22815625
  18. a combination of PCR-based mutation screening, together with deletion and duplication analysis, is mandatory for the accurate screening of the PCDH15 gene in Usher patients. PMID: 20538994
  19. Study suggests that PCDH15 is associated with lipid abnormalities. PMID: 19816713
  20. A founder mutation, R245X, of the PCDH15 gene among Ashkenazi Jews is a cause of Type 1 Usher Syndrome. PMID: 12711741
  21. Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. PMID: 14570705
  22. characterizeation of a new allele of the protocadherin 15 gene (designatedPcdh15(av-6J); Young Pcdh15(av-6J) mice are unresponsive to auditory stimulation and show circling behavior indicative of vestibular dysfunction PMID: 16887306
  23. Analysis of three large deletions revealed that all six breakpoints are different. Breakpoint junction was identified in one patient and four other breakpoints were mapped to 4 kb. PMID: 17277737
  24. Both mouse and human protocadherin 15 genes have complex genomic structures and transcription control mechanisms. PMID: 17706913
  25. Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A PMID: 18463160
  26. study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome PMID: 18719945
  27. missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss PMID: 19107147
  28. One SNP in PCDH15 (rs7095441) and two SNPs in MYH14 (rs667907 and rs588035), resulted in significant associations in the Polish sample set and significant interactions with noise exposure level in the Swedish sample set. PMID: 19183343
  29. Mutations cause Usher syndrome type 1F. Protocadherins are essential for maintenance of normal retinal and cochlear function. PMID: 11487575

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Involvement in disease
Usher syndrome 1F (USH1F); Usher syndrome 1D/F (USH1DF); Deafness, autosomal recessive, 23 (DFNB23)
Subcellular Location
Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Secreted.
Tissue Specificity
Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed
Database Links

HGNC: 14674

OMIM: 276900

KEGG: hsa:65217

STRING: 9606.ENSP00000354950

UniGene: Hs.280209

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