Recombinant Human Alsin (ALS2), partial

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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HGNC: 443

OMIM: 205100

KEGG: hsa:57679

STRING: 9606.ENSP00000264276

UniGene: Hs.471096