Recombinant Human Gap junction beta-4 protein (GJB4)

Code CSB-CF865136HU
MSDS
Size Pls inquire
Source in vitro E.coli expression system
Have Questions? Leave a Message or Start an on-line Chat

Product Details

Target Names
GJB4
Uniprot No.
Alternative Names
GJB4; Gap junction beta-4 protein; Connexin-30.3; Cx30.3
Species
Homo sapiens (Human)
Expression Region
1-266
Target Protein Sequence
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGC PNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNL SKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRP TEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS QGGHPEDGNSVLMKAGSAPVDAGGYP
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.

Customer Reviews and Q&A

 Customer Reviews

There are currently no reviews for this product.

Submit a Review here

Target Background

Function
Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore.
Gene References into Functions
  1. GJB4 may be a genetic risk factor for the development of nonsyndromic hearing loss and the data from the present study can be used to direct the clinical evaluation and effectively manage the care of families of children with GJB4. PMID: 25333454
  2. In this study, we found no mutations of GJB4 in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
  3. Letter: describe erythrokeratodermia variabilis phenotype related to novel mutation in GJB4 gene. PMID: 23037955
  4. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. PMID: 21950330
  5. Bidirectional sequencing of the coding region of GJB4 revealed a novel c.295G>A missense mutation. PMID: 22266302
  6. There were no mutations found in the GJB4 gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
  7. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families PMID: 11933201
  8. the involvement of connexin gene 30.3 (GJB4) in the etiology of erythrokeratodermia variabilis PMID: 12648223
  9. These results not only provide new insights into epidermal connexin synthesis and polymerization, but also allow a novel molecular explanation for the similarity of EKV phenotypes. PMID: 14583444
  10. Not all clinically diagnosed individuals with erythrokeratoderma variabilis harbor Cx30.3 disease-associated mutations. PMID: 16297190
  11. Five patients with erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D). PMID: 19291775

Show More

Hide All

Involvement in disease
Erythrokeratodermia variabilis et progressiva 2 (EKVP2)
Subcellular Location
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
Protein Families
Connexin family, Beta-type (group I) subfamily
Database Links

HGNC: 4286

OMIM: 605425

KEGG: hsa:127534

STRING: 9606.ENSP00000345868

UniGene: Hs.351203

icon of phone
Call us
301-363-4651 (Available 9 a.m. to 5 p.m. CST from Monday to Friday)
icon of address
Address
7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA
icon of social media
Join us with

Subscribe newsletter

Leave a message

* To protect against spam, please pass the CAPTCHA test below.
CAPTCHA verification
© 2007-2024 CUSABIO TECHNOLOGY LLC All rights reserved. 鄂ICP备15011166号-1