Recombinant Human Biotinidase (BTD), partial

貨號：

CSB-EP002854HU1
規格：

￥1836
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：

BTD
Uniprot No.：

P43251
別名：

(Biotinase)
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

41.3 kDa
表達區域：

322-397aa
氨基酸序列

YHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSE
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-GST-tagged and C-terminal Myc-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：

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.
基因功能參考文獻：
1. BTD mutation is associated with biotinidase deficiency. PMID: 29995633
2. Biotinidase deficiency is reviewed. PMID: 26577040
3. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). PMID: 27378695
4. The history and genetic basis of biotinidase deficiency has been presented. (Review) PMID: 26456103
5. 48 novel alterations in the biotinidase gene have been identified; correlating the individual's serum enzymatic activity with genotype, were able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals PMID: 26810761
6. The common biotinidase gene mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population. PMID: 25754625
7. Summary of the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey. PMID: 25423671
8. Three novel pathogenic variants in BTD gene were identified in a cohort of Brazilian patients with biotinidase deficiency and control suggesting an allelic heteregeneity of the condition. PMID: 25174816
9. Report incidence of profound biotinase deficiency in Swedish newborns and adoptive immigrant children. PMID: 20224900
10. High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary. PMID: 20549359
11. Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 in Biotinidase deficiency patients and families. PMID: 23481307
12. Four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation PMID: 19757147
13. Six different mutations in the biotinidase gene are identified in biotinidase in four Chinese patients; determination of biotinidase activities are performed for selective screening of biotinidase deficiency PMID: 19728141
14. loss of overall biotinidase expression is a novel marker for thyroid cancer aggressiveness. PMID: 22911723
15. Plasma BTD activity increases in hepatic glycogen storage disease patients. PMID: 20532819
16. 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported. PMID: 20556795
17. Mutations in biotinidase is associated with biotinidase deficiency. PMID: 20539236
18. 12 patients with multiple carboxylase deficiency, six mutations were found in the BT gene and 4 in the HLCS gene, including 5 novel mutations. PMID: 19806568
19. review of mutations causing biotinidase deficiency PMID: 11668630
20. report of 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene PMID: 12359137
21. analysis of mutations in biotinidase deficiency PMID: 15776412
22. 21 different mutations were identified in 49 patients, including four novel mutations. Ten mutations proved to be unique to the Hungarian population. PMID: 17185019
23. Posttranslational modification of histones by biotinylation can be catalyzed by biotinidase; role of this function is ambiguous. PMID: 18479898
24. This case indicates that biotinidase deficiency should be included in the differential diagnosis of subacute myelopathy and emphasizes the importance of a prompt diagnosis to prevent irreversible neurological damage. PMID: 18645204
顯示更多

收起更多
相關疾?。?/div>
Biotinidase deficiency (BTD deficiency)
亞細胞定位：

Secreted, extracellular space.
蛋白家族：

Carbon-nitrogen hydrolase superfamily, BTD/VNN family
數據庫鏈接：

HGNC: 1122

OMIM: 253260

KEGG: hsa:686

STRING: 9606.ENSP00000306477

UniGene: Hs.444197