Recombinant Human Anoctamin-5 (ANO5), partial

^{In
Stock}

貨號：

CSB-EP741706HU
說明書：

MSDS Datasheet
規格：

￥2328
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 90% as determined by SDS-PAGE.
基因名：

ANO5
Uniprot No.：

Q75V66
別名：

(Gnathodiaphyseal dysplasia 1 protein)(Transmembrane protein 16E)
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

42.9 kDa
表達區域：

1-299aa
氨基酸序列

MGDPDLLEVLAEEGEKVNKHIDYSFQMSEQSLSSRETSFLINEETMPAKRFNLFLRRRLMFQKNQQSKDSIFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFETNLRKTGLELEIEDKRDSEDGRTYFVKIHAPWEVLVTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVKYPHPEYFTAQFSRHRQELFLIEDQATFFPSSSRNRIVYYILSRCPFGIEDGKKRFGIERLLNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARFSYFYKEQPLDLIKNYYGEK
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 and C-terminal Myc-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：

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：

3-7 business days
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：

Does not exhibit calcium-activated chloride channel (CaCC) activity.
基因功能參考文獻：
1. First direct demonstration of Ca(2+)-dependent Phospholipid scrambling activity for TMEM16E; this suggests a gain-of-function phenotype related to a Gnathodiaphyseal dysplasia mutation. PMID: 29124309
2. After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors the authors saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. The data suggest that ANO5 plays a role in osteoblast differentiation. PMID: 28176803
3. The Limb-girdle muscular dystrophy 2L family was characterized by mild chronic myopathy and bilateral gastrocnemius hypertrophy with obviously increased creatine kinase levels. Pathological changes included atrophy of fibers with interstitial connective tissues hyperplasia. The pathogenic allele was a c.220C> T mutation in the ANO5 gene. PMID: 30235762
4. A heterozygous mutation in the ANO5 gene c.1067G > A (p.Cys356Tyr) was identified in both affected individuals in a Russian family with giant cementoma and bone fractures consistent with a diagnosis of gnathodiaphyseal dysplasia. PMID: 27216912
5. Results show that ANO5 is downregulated in thyroid cancer and, negatively associated with lymph node metastasis. Its inhibition promotes the migration and invasion of thyroid cancer cells suggesting it as a tumor marker. PMID: 28902351
6. Study characterized 12 newly identified and 2 previously identified patients with ANO5 mutations from 11 families. Material was genetically homogeneous with most patients homozygous for the Finnish founder variant c.2272C>T (p.Arg758Cys). In one family, study found a novel p.Met470Arg variant compound heterozygous with p.Arg758Cys. PMID: 27911336
7. Asymptomatic, sometimes mild hyperCKemia or exercise intolerance is a presentation of ANO5-related myopathy. PMID: 28187523
8. Here we show that Ano5-deficient mice have reduced capacity to repair the sarcolemma following laser-induced damage, exhibit delayed regeneration after cardiotoxin injury and suffer from defective myoblast fusion necessary for the proper repair and regeneration of multinucleated myotubes. these data suggest that ANO5 plays an important role in sarcolemmal membrane dynamics. PMID: 26911675
9. Study screened the ANO5 gene in 786 myopathic patients and 52 controls by combining NGS and Sanger sequencing. In the cohort of patients, thirty-three are homozygous or compound heterozygous for causative mutations in ANO5 PMID: 25891276
10. supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency PMID: 24639367
11. The present report describes an association between LGMD2L consequent upon mutation in ANO5 and macular dystrophy in one affected person. PMID: 24232312
12. Dilated cardiomyopathy is associated with mutations in the ANO5 gene. PMID: 23041008
13. ANO5 mutations can be associated with amyloid deposition in muscle PMID: 23663589
14. A high prevalence of ANO5 deficiency was found among patients with unclassified recessive limb girdle muscular dystrophy 2 PMID: 23670307
15. a diagnosis of ANO5 causing Muscular Dystrophy, Limb-Girdle, Type 2L, in 16% of the families (11/68) in a well-defined limb girdle muscular dystrophy cohort in the Netherlands PMID: 23607914
16. investigated the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes; study confirmed that ANO5 gene mutations are responsible for about one fourth of cases of undiagnosed muscular dystrophy in the population studied PMID: 23606453
17. This study showed that TMEM16E possesses distinct function other than chloride channel activity, and another protein-stabilizing machinery toward the TMEM16E proteins should be considered for the on-set regulation of their phenotypes in tissues. PMID: 23843187
18. By sequencing the entire ANO5 gene coding region and untranslated regions in a large Italian gnathodiaphyseal dyplasia family, a novel missense mutation causing the p.Thr513Ile substitution, was found. PMID: 23047743
19. occurrence and molecular epidemiology of LGMD2L, caused by mutations in the anoctamin 5 (ANO5) gene, in a Italian cohort differed from those observed in other European countries. PMID: 22742934
20. This study demonistrayed that anoctamin 5 mutations associate to distal muscular dystrophy. PMID: 22980764
21. A family is described in which 2 mutations in ANO5 segregate with marked creatine kinase-type hypercreatinemia, demonstrating that recessively inherited ANO5 mutations not only lead to muscular dystrophy but may also cause bone disease. PMID: 23055322
22. The c.191dupA mutation, already reported as a founder mutation in Caucasian patients with anoctamin myopathies, was found in our family in a heterozygous state. PMID: 22336395
23. This study identified four novel mutations in the ANO5 gene cause high lever Creatine Kinase and limb girdle muscular weakness and Miyoshi type of muscular dystrophy. PMID: 22499103
24. Mutations are distributed all over the gene, indicating that muscular dystrophy caused by ANO5 can be expected to occur in all populations PMID: 22402862
25. mutation in patients with a distal myopathy;(a new separate clinical, genetic and histopathologic entity) PMID: 20692837
26. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. PMID: 21186264
27. Recessive mutations were identified in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families. PMID: 20096397
顯示更多

收起更多
相關疾?。?/div>
Gnathodiaphyseal dysplasia (GDD); Limb-girdle muscular dystrophy 2L (LGMD2L); Miyoshi muscular dystrophy 3 (MMD3)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
蛋白家族：

Anoctamin family
組織特異性：

Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells.
數據庫鏈接：

HGNC: 27337

OMIM: 166260

KEGG: hsa:203859

STRING: 9606.ENSP00000315371

UniGene: Hs.154329