Recombinant Human Enamelin (ENAM), partial

中文名稱：

人ENAM重組蛋白
貨號：

CSB-BP007662HU
規格：

￥2832
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

ENAM
Uniprot No.：

Q9NRM1
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

Baculovirus
分子量：

12.4 kDa
表達區域：

1043-1142aa
氨基酸序列

ERQQQRPSNILHLPCFGSKLAKHHSSTTGTPSSDGRQSPFDGDSITPTENPNTLVELATEEQFKSINVDPLDADEHSPFEFLQRGTNVQDQVQDCLLLQA
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：

C-terminal 6xHis-tagged
產品提供形式：

Liquid or 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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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.
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：

Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.
基因功能參考文獻：
1. Lack of association between the ENAM polymorphism (rs12640848) and dental caries in Czech children was detected. PMID: 29185146
2. The ENAM and TNF-alpha genes were likely associated with caries occurrence in Chinese children. The ENAM rs3796703 CT and TNF-alpha rs1800629 AG genotypes might be involved in caries susceptibility and protection, respectively. PMID: 28395167
3. study investigated the phenotypic effect of SNP C14625T (rs7671281) on the thickness of human dental enamel, exploring the effects of positive selection on a dental gene PMID: 27357321
4. Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage. PMID: 28902892
5. The study revealed the strong association between rs12640848 marker of ENAM gene and caries susceptibility in primary teeth in children from Poland. PMID: 26910531
6. Overrepresentation of the G allele of the enamelin marker was seen in the erosion group compared to the unaffected group. PMID: 25791822
7. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. PMID: 25769099
8. findings provide useful information for the implication of ENAM gene polymorphism in autosomal-dominant/-recessive amelogenesis imperfecta. PMID: 25427323
9. Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family. PMID: 25143514
10. 2 exonic SNPs, both changing an amino acid in protein region encoded by exon 10 (p.I648T and p.R763Q), increased caries susceptibility 2.66-fold. findings support ENAM as gene candidate for caries susceptibility. PMID: 24487377
11. Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample. PMID: 23790503
12. Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta. PMID: 22414746
13. hypocalcified amelogenesis imperfecta, Witkop type III, was unrelated to previously described mutations in the ENAM or MMP-20 genes PMID: 21504268
14. The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation PMID: 19923784
15. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta PMID: 11978766
16. heterogeneous mutations are responsible for an autosomal-dominant hypoplastic form of amelogenesis imperfecta PMID: 12407086
17. critical for proper dental enamel formation PMID: 14656895
18. Demonstration of a ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel pitting. PMID: 14684688
19. Ultrastructural enamel changes in the patient with the autosomal dominant ENAM g.13185-13186insAG mutation, were less pronounced compared to ultrastructural changes in patients with the autosomal dominant ENAM mutation 8344delG. PMID: 17125728
20. A mutation was found in exon 9 where guanine was substituted by thymine in one of the alleles in position 817, generating a change of arginine to methionine in codon 179 of the protein. PMID: 17316551
21. This work shows that bursts of adaptive enamelin evolution occur on primate lineages with inferred dietary changes. PMID: 18245370
22. a single base difference g359A --> G located in exon 1 was identified and ruled out the possible mutation in exon 2, exon 3, exon 4, exon 5, exon 6, exon 7, exon 8, exon 9, exon 10, g2382, g6395 and g8344 of ENAM gene in the AI patient. PMID: 18466877
23. A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified. PMID: 18714142
24. Analysis revealed 2 ENAM mutations (autosomal-dominant g.14917delT and autosomal-recessive g.13185-13186insAG mutations). Single T deletion in exon 10 is a novel deletion mutation(g.14917delT, c.2991delT)predicted to result in premature termination codon. PMID: 19329462
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相關疾病：

Amelogenesis imperfecta 1B (AI1B); Amelogenesis imperfecta 1C (AI1C)
亞細胞定位：

Secreted, extracellular space, extracellular matrix.
組織特異性：

Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.
數據庫鏈接：

HGNC: 3344

OMIM: 104500

KEGG: hsa:10117

STRING: 9606.ENSP00000379383

UniGene: Hs.667018