Recombinant Human Protein FAM83H (FAM83H), partial

中文名稱：

人FAM83H重組蛋白
貨號：

CSB-YP761640HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人FAM83H重組蛋白
貨號：

CSB-EP761640HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人FAM83H重組蛋白
貨號：

CSB-EP761640HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

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.
其他：

中文名稱：

人FAM83H重組蛋白
貨號：

CSB-BP761640HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人FAM83H重組蛋白
貨號：

CSB-MP761640HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

FAM83H
Uniprot No.：

Q6ZRV2
別名：

FAM83HProtein FAM83H
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

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.
產品提供形式：

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.
復溶：

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.
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：

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 ：

Please contact us to get it.

產品評價

靶點詳情

功能：

May play a major role in the structural organization and calcification of developing enamel. May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration.
基因功能參考文獻：
1. results suggest that amelogenesis imperfecta caused by the FAM83H mutation is mediated by the disorganization of the keratin cytoskeleton and subsequent disruption of desmosomes in ameloblasts. PMID: 27222304
2. Evolutionary analysis of FAM83H in vertebrates with implications for human Amelogenesis imperfecta has been presented. PMID: 28683132
3. FAM83H missense mutation reported in one of the 3 Chilean families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin. PMID: 26142250
4. In hereditary amelogenesis imperfect, our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation. PMID: 25487982
5. Results suggest keratin cytoskeleton organization is regulated by FAM83H recruitment of CK-1alpha to keratins, and keratin filament disassembly caused by overexpression of FAM83H and localization of CK-1alpha contribute to the progression of colorectal cancer. PMID: 23902688
6. amelogenesis imperfecta-causing mutations were identified in three of the probands: 3)a previously described nonsense transition mutation in a single allele of FAM83H (c.1379G>A; g.5663G>A; p.W460*) PMID: 23355523
7. Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta. PMID: 22414746
8. This study reports on a novel FAM83H nonsense mutation, p.Y302X, in a Danish five-generation family with autosomal dominant hypocalcified amelogenesis imperfect. The phenotypic variation in the affected family members with this mutation was limited. PMID: 21702852
9. nuclear targeting of the truncated FAM83H protein contributes to the severe, generalized enamel phenotype in [autosomal-dominant hypocalcification amelogenesis imperfecta] PMID: 21118793
10. the C-terminal portion of FAM83H is required for tooth enamel calcification PMID: 18484629
11. a novel nonsense FAM83H mutation (c.1374C 1 A; p.Y458X)causing autosomal dominant hypocalcified amelogenesis imperfecta PMID: 20160442
12. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta demonstrate that FAM83H is required for proper dental-enamel calcification. PMID: 18252228
13. identified FAM83H nonsense mutations in all eight families with autosomal dominant hypocalcified amelogenesis imperfecta PMID: 19220331
14. Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized autosomal-dominant hypocalcified amelogenesis imperfecta phenotype. A unique and previously unreported phenotype is also described. PMID: 19407157
15. A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel [in amelogenesis imperfecta] PMID: 19825039
16. Fam83h localizes in the intracellular environment, is associated with vesicles, and plays an important role in dental enamel formation. FAM83H is the first gene involved in the etiology of amelogenesis imperfecta that does not encode a secreted protein. PMID: 19828885
顯示更多

收起更多
相關疾病：

Amelogenesis imperfecta 3A (AI3A)
亞細胞定位：

Cytoplasm, cytoskeleton.
蛋白家族：

FAM83 family
組織特異性：

Expressed in the tooth follicle.
數據庫鏈接：

HGNC: 24797

OMIM: 130900

KEGG: hsa:286077

STRING: 9606.ENSP00000373565

UniGene: Hs.67776