Browse our Amyotrophic Lateral Sclerosis 2 (Juvenile) (ALS2) ELISA Kits

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Amyotrophic Lateral Sclerosis 2 (Juvenile) ELISA Kits (ALS2)
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Synonyms:
3222402C23Rik, 9430073A21Rik, als2, Als2cr6, Alsin, ALSJ, IAHSP, mKIAA1563, PLSJ, si:dkey-33m14.1
list all ELISA KIts Gene Name GeneID UniProt
Human ALS2 ALS2 57679 Q96Q42
Rat ALS2 ALS2 363235 P0C5Y8
Mouse ALS2 ALS2 74018 Q920R0

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More ELISA Kits for Amyotrophic Lateral Sclerosis 2 (Juvenile) Interaction Partners

Zebrafish Amyotrophic Lateral Sclerosis 2 (Juvenile) (ALS2) interaction partners

Human Amyotrophic Lateral Sclerosis 2 (Juvenile) (ALS2) interaction partners

  1. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 (show SPG11 ELISA Kits) in three families and TFG/SPG57, SACS (show SACS ELISA Kits) and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A (show ATL1 ELISA Kits)) was also identified in one additional family

  2. This study identified two novel ALS2 mutations in two Pakistani families with infantile-onset ascending hereditary spastic paraplegia cosegregating with the disease.

  3. novel compound heterozygous ALS2 deletion mutations were identified in two siblings with infantile ascending hereditary spastic paraplegia.

  4. 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

  5. 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.

  6. The ALS2 gene should be screened for mutations in patients who present with generalized dystonia and cerebellar signs.

  7. The ALS2 mutation c.2761C>T leading to infantile-onset hereditary spastic paraplegia resides in the pleckstrin (show PLEK ELISA Kits) domain, which is involved in the overall neuronal development or maintenance.

  8. 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.

  9. these results suggest that Als2 is a binding partner of Uxt (show UXT ELISA Kits) and Als2/Uxt (show UXT ELISA Kits) interaction could be important for the activation of Nf-kappaB (show NFKB1 ELISA Kits) pathway.

  10. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Mouse (Murine) Amyotrophic Lateral Sclerosis 2 (Juvenile) (ALS2) interaction partners

  1. two ALS-linked factors, SQSTM1 (show SQSTM1 ELISA Kits) and ALS2, have distinct but additive protective roles against mutant SOD1 (show SOD1 ELISA Kits)-mediated toxicity by modulating neuronal proteostasis possibly through the autophagy-endolysosomal system.

  2. alsin and spartin (show SPG20 ELISA Kits) may interact each other physically.

  3. Alsin and SOD1 (show SOD1 ELISA Kits)(G93A) proteins regulate endosomal reactive oxygen species production by glial cells and proinflammatory pathways responsible for neurotoxicity.

  4. these results suggest that Als2 is a binding partner of Uxt (show UXT ELISA Kits) and Als2/Uxt (show UXT ELISA Kits) interaction could be important for the activation of Nf-kappaB (show NFKB1 ELISA Kits) pathway.

  5. Rab5 (show RAB5A ELISA Kits)-mediated endocytosis was severely altered in ALS2(-/-) neurons.

  6. ALS2/Alsin exacerbates motor dysfunction in a SOD1 (show SOD1 ELISA Kits)-expressing mouse ALS model by disturbing endolysosomal trafficking

  7. Als2(-/-) mice showed a significantly lower spontaneous rearing activity than wild-type litters. These genetic background- and/or gender-specific findings suggest the presence of modifiers for life span and motor activities in Als2(-/-) mice.

  8. Alsin is a Rab5 (show RAB5A ELISA Kits) and Rac1 guanine nucleotide exchange factor (show ARHGEF12 ELISA Kits)

  9. Rac1, PI3 kinase (show PIK3CA ELISA Kits), and Akt3 (show AKT3 ELISA Kits) have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 (show SOD1 ELISA Kits) mutant-induced motoneuronal cell death

  10. loss of ALS2 function is not sufficient to cause motor neuron disease in a mouse model. However, lack of ALS2 did predispose neurons to oxidative stress, implying that ALS2 might serve as a risk factor for motor neuron disease.

Amyotrophic Lateral Sclerosis 2 (Juvenile) (ALS2) Antigen Profile

Antigen Summary

The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene.

Alternative names and synonyms associated with Amyotrophic Lateral Sclerosis 2 (Juvenile) (ALS2)

  • amyotrophic lateral sclerosis 2a (juvenile) (als2a) Elisa Kit
  • alsin (CpipJ_CPIJ008258) Elisa Kit
  • alsin (CpipJ_CPIJ008260) Elisa Kit
  • alsin (LOC100345931) Elisa Kit
  • alsin-like (LOC100436721) Elisa Kit
  • amyotrophic lateral sclerosis 2 (juvenile) (ALS2) Elisa Kit
  • amyotrophic lateral sclerosis 2 (juvenile) (Als2) Elisa Kit
  • 3222402C23Rik Elisa Kit
  • 9430073A21Rik Elisa Kit
  • als2 Elisa Kit
  • Als2cr6 Elisa Kit
  • Alsin Elisa Kit
  • ALSJ Elisa Kit
  • IAHSP Elisa Kit
  • mKIAA1563 Elisa Kit
  • PLSJ Elisa Kit
  • si:dkey-33m14.1 Elisa Kit

Protein level used designations for ALS2

alsin 2 , amyotrophic lateral sclerosis 2 (juvenile) , alsin , alsin-like , amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein , amyotrophic lateral sclerosis 2 protein , amyotrophic lateral sclerosis 2 protein homolog , amyotrophic lateral sclerosis protein 2 homolog , amyotrophic lateral sclerosis 2 (juvenile) homolog

GENE ID SPECIES
557014 Danio rerio
6040184 Culex quinquefasciatus
6040186 Culex quinquefasciatus
100345931 Oryctolagus cuniculus
100436721 Pongo abelii
57679 Homo sapiens
363235 Rattus norvegicus
535750 Bos taurus
74018 Mus musculus
100626864 Sus scrofa
470613 Pan troglodytes
478872 Canis lupus familiaris
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