ALS2 Antibody

Code CSB-PA001635GA01HU
Size US$685
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Product Details

Uniprot No. Q96Q42
Target Names ALS2
Alternative Names ALS 2 antibody; ALS2 antibody; ALS2_HUMAN antibody; ALS2CR6 antibody; Alsin antibody; ALSJ antibody; Amyotrophic lateral sclerosis 2 (juvenile) antibody; Amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 6 antibody; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein antibody; Amyotrophic lateral sclerosis 2 protein antibody; Amyotrophic lateral sclerosis protein 2 antibody; FLJ31851 antibody; IAHSP antibody; KIAA1563 antibody; MGC87187 antibody; PLSJ antibody
Raised in Rabbit
Species Reactivity Human,Mouse,Rat
Immunogen Human ALS2
Immunogen Species Homo sapiens (Human)
Isotype IgG
Purification Method Antigen Affinity purified
Concentration It differs from different batches. Please contact us to confirm it.
Buffer PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications ELISA,WB
Protocols ELISA Protocol
Western Blotting(WB) Protocol
Troubleshooting and FAQs Antibody FAQs
Storage Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Data

Function May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).
Gene References into Functions
  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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Involvement in disease Amyotrophic lateral sclerosis 2 (ALS2); Juvenile primary lateral sclerosis (JPLS); Infantile-onset ascending spastic paralysis (IAHSP)
Database Links

HGNC: 443

OMIM: 205100

KEGG: hsa:57679

STRING: 9606.ENSP00000264276

UniGene: Hs.471096

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