Recombinant Human PDZ domain-containing protein GIPC3 (GIPC3)

Code CSB-YP844739HU
MSDS
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Source Yeast
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Code CSB-EP844739HU
MSDS
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Source E.coli
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Code CSB-EP844739HU-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-BP844739HU
MSDS
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Source Baculovirus
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Code CSB-MP844739HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
GIPC3
Uniprot No.
Alternative Names
GIPC3; C19orf64PDZ domain-containing protein GIPC3
Species
Homo sapiens (Human)
Expression Region
1-312
Target Protein Sequence
MEGAAAREAR GTETPRASAP PPAPSEPPAA PRARPRLVFR TQLAHGSPTG KIEGFTNVRE LYAKIAEAFG IAPTEILFCT LNSHKVDMQK LLGGQIGLED FIFAHVRGET KEVEVTKTED ALGLTITDNG AGYAFIKRIK EGSIINRIEA VCVGDSIEAI NDHSIVGCRH YEVAKMLREL PKSQPFTLRL VQPKRAFDMI GQRSRSSKCP VEAKVTSGRE TLRLRSGGAA TVEEAPSEFE EEASRKVDDL LESYMGIRDP ELASTMVETS KKTASAQEFA RCLDSVLGEF AFPDEFVVEV WAAIGEAREA CG
Protein Length
full length protein
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
Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Gene References into Functions
  1. This study is the first report of the contribution of theGIPC3 gene to hearing loss in the Iranian population PMID: 29605370
  2. This study expands the mutational spectrum of GIPC3 in autosomal recessive nonsyndromic hearing impairment. PMID: 25296581
  3. This study identified a novel causative mutation in GIPC3 for congenital nonsyndromic hearing loss in a consanguineous family from Saudi Arabia. PMID: 23510777
  4. A maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15. PMID: 18066515
  5. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. PMID: 21660509
  6. Gipc3 plays a pivotal role in acoustic signal acquisition and propagation in cochlear hair cells, while mutations are associated with audiogenic seizures and sensorineural hearing loss. PMID: 21326233
  7. DFNB72 is telomeric to DFNB68, the only other known deafness locus with statistically significant support for linkage to chromosome 19p. PMID: 17690910
  8. Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2 PMID: 11836571

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Involvement in disease
Deafness, autosomal recessive, 15 (DFNB15)
Protein Families
GIPC family
Tissue Specificity
Widely expressed in adult and fetal tissues. Highest levels are found in jejunum, lymph node, parietal lobe, fetal spleen and fetal thymus. Expressed in cervical, melanoma, chronic myelogenous and gastric cancer cell lines.
Database Links

HGNC: 18183

OMIM: 601869

KEGG: hsa:126326

STRING: 9606.ENSP00000319254

UniGene: Hs.266873

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