Recombinant Human Gap junction beta-4 protein (GJB4)

in vitro E.coli expression system

中文名稱：

人GJB4重組蛋白
貨號：

CSB-CF865136HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

GJB4
Uniprot No.：

Q9NTQ9
別名：

GJB4; Gap junction beta-4 protein; Connexin-30.3; Cx30.3
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-266
氨基酸序列

MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGC PNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNL SKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRP TEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS QGGHPEDGNSVLMKAGSAPVDAGGYP
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

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.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
注意事項：

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.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
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
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相關疾病：

Erythrokeratodermia variabilis et progressiva 2 (EKVP2)
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.
蛋白家族：

Connexin family, Beta-type (group I) subfamily
數據庫鏈接：

HGNC: 4286

OMIM: 605425

KEGG: hsa:127534

STRING: 9606.ENSP00000345868

UniGene: Hs.351203