Recombinant Human Alsin (ALS2), partial

中文名稱：

Recombinant Human Alsin(ALS2) ,partial
貨號(hào)：

CSB-YP857009HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Alsin(ALS2) ,partial
貨號(hào)：

CSB-EP857009HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Alsin(ALS2) ,partial
貨號(hào)：

CSB-EP857009HU-B
說明書：

MSDS Datasheet
規(guī)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：

Recombinant Human Alsin(ALS2) ,partial
貨號(hào)：

CSB-BP857009HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Alsin(ALS2) ,partial
貨號(hào)：

CSB-MP857009HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

ALS2
Uniprot No.：

Q96Q42
別名：

ALS 2; ALS2; ALS2_HUMAN; ALS2CR6; Alsin; ALSJ; Amyotrophic lateral sclerosis 2 (juvenile); Amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 6; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein; Amyotrophic lateral sclerosis protein 2; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Partial
蛋白標(biāo)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(chǎn)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(fù)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(chǔ)存條件：

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

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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons.
基因功能參考文獻(xiàn)：
1. This study identified a novel ALS2 pathogenic founder variant in Iran that further adds to the allelic heterogeneity of infantile-onset ascending hereditary spastic paralysis. PMID: 30128655
2. Nonsense mutation in ALS2 gene is associated with severe and progressive infantile onset of spastic paralysis. PMID: 28502191
3. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family PMID: 27601211
4. This study identified two novel ALS2 mutations in two Pakistani families with infantile-onset ascending hereditary spastic paraplegia cosegregating with the disease. PMID: 26751646
5. novel compound heterozygous ALS2 deletion mutations were identified in two siblings with infantile ascending hereditary spastic paraplegia. PMID: 25433428
6. We identified a novel homozygous splice-site mutation (c.3512+1G>A) in the ALS2 gene (NM_020919.3) encoding alsin that segregated with the disease in this family PMID: 25474699
7. Data indicate a splice-site mutation of the amyotrophic lateral sclerosis 2 (juvenile) protein (ALS2) in four children of a consanguineous family with infantile-onset ascending hereditary spastic paraplegia. PMID: 24704789
8. The ALS2 gene should be screened for mutations in patients who present with generalized dystonia and cerebellar signs. PMID: 24562058
9. The ALS2 mutation c.2761C>T leading to infantile-onset hereditary spastic paraplegia resides in the pleckstrin domain, which is involved in the overall neuronal development or maintenance. PMID: 24315819
10. ALS2 sequencing revealed two heterozygous mutations: the missense variant c.299 G>T, leading to the replacement of a serine with an isoleucine (p.S100I), and the splicing variant c.2580-2 A>G in brothers with juvenile amyotrophic lateral sclerosis. PMID: 23282280
11. these results suggest that Als2 is a binding partner of Uxt and Als2/Uxt interaction could be important for the activation of Nf-kappaB pathway. PMID: 21907703
12. causative genes for familial amyotrophic lateral sclerosis PMID: 12138710
13. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. PMID: 12145748
14. 16 patients from 11 unrelated families were studied with a phenotype of infantile ascending hereditary spastic paralysis (IAHSP); Alsin mutations were found in 4 of the 10 families, whereas haplotype analysis excluded the ALS2 locus in one family PMID: 12601111
15. Perturbation of endosomal dynamics caused by loss of ALS2 rab5GEF activity might underlie neuronal dysfunction and degeneration. PMID: 12837691
16. deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS. PMID: 12866199
17. A nonsense mutation in alsin was found in infantile spastic paraplegia. Full-length alsin is probably required for the proper development and/or functioning of upper motor neurons. PMID: 12919135
18. Mutations in the ALS2 gene linked to early-onset motor neuron disease uniformly produce loss of activity through decreased protein stability of this endosomal protein. PMID: 14668431
19. Mutations of ALS2 are not a common cause of ALS. PMID: 14676054
20. Expression of alsin LF, but not alsin short form, protected motor neuronal cells from toxicity induced by mutants of the Cu/Zn-superoxide dismutase (SOD1) gene, which cause autosomal dominant ALS PMID: 14970233
21. oligomerization of the ALS2 protein is one of the fundamental features for its physiological function involving endosome dynamics in vivo PMID: 15247254
22. A peptide derived from the ALS2 protein is selectively localized to the somatodendritic compartment of motor neurons in human spinal cord. PMID: 15371724
23. These results suggest that amyotrophic lateral sclerosis 2 C-terminal like (ALS2CL), a novel ALS2 homologue, modulates Rab5-mediated endosome dynamics in HeLa cells. PMID: 15388334
24. Rac1, PI3 kinase, and Akt3 have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 mutant-induced motoneuronal cell death PMID: 15579468
25. ALS2/Alsin has a role in regulating Rac-PAK signaling and neurite outgrowth PMID: 16049005
26. colocalization of Alsin with the centrosomal markers gamma-tubulin and A kinase anchoring protein. PMID: 16085057
27. ALS2 mutations are not implicated in the pathogenesis of adult-onset primary lateral sclerosis. PMID: 17698795
28. Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral sclerosis. [REVIEW] PMID: 17955197
29. mutations in ALS2 also need to be considered in patients from northwestern Europe with early-onset spastic paralysis and amyotrophic or primary lateral sclerosis. PMID: 18523452
30. Results suggest at least four recombination events in the ALS2 gene during maternal meiosis followed by a meiosis I error and postzygotic trisomy rescue or gamete complementation, in a patient with infantile-onset ascending spastic paralysis. PMID: 18810511
31. A structural model for the N-terminal 690-residue region of alsin through comparative modelling based on regulator of chromosome condensation 1 was created. PMID: 19023603
32. This novel ALS2 splice-site mutation is causing the loss of exon 18 in the transcript which results in a frameshift after exon 17. PMID: 19122027
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相關(guān)疾病：

Amyotrophic lateral sclerosis 2 (ALS2); Juvenile primary lateral sclerosis (JPLS); Infantile-onset ascending spastic paralysis (IAHSP)
數(shù)據(jù)庫(kù)鏈接：

HGNC: 443

OMIM: 205100

KEGG: hsa:57679

STRING: 9606.ENSP00000264276

UniGene: Hs.471096