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ALS2 产品

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

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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. [provided by RefSeq, Oct 2008].

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ALS2 抗体

High quality antibodies with extensive validation data.

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Latest Publications for our ALS2 Products

Hsu, Spannl, Ferguson, Hyman, Parton, Zerial: "Rab5 and Alsin regulate stress-activated cytoprotective signaling on mitochondria." in: eLife, Vol. 7, (2018) (PubMed).

Çobanoğlu, Ozansoy, Başak: "Are alsin and spartin novel interaction partners?" in: Biochemical and biophysical research communications, Vol. 427, Issue 1, pp. 1-4, (2012) (PubMed).

Yang, Hentati, Deng, Dabbagh, Sasaki, Hirano, Hung, Ouahchi, Yan, Azim, Cole, Gascon, Yagmour, Ben-Hamida, Pericak-Vance, Hentati, Siddique: "The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis." in: Nature genetics, Vol. 29, Issue 2, pp. 160-5, (2001) (PubMed).

Synonyms and alternative names related to ALS2

amyotrophic lateral sclerosis 2a (juvenile) (als2a), alsin (CpipJ_CPIJ008258), alsin (CpipJ_CPIJ008260), ALS2, alsin Rho guanine nucleotide exchange factor (ALS2), ALS2, alsin Rho guanine nucleotide exchange factor (Als2), amyotrophic lateral sclerosis 2 (juvenile) (Als2), amyotrophic lateral sclerosis 2 (juvenile) (ALS2), 3222402C23Rik, 9430073A21Rik, als2, ALS2CR6, Als2cr6, Alsin, ALSJ, IAHSP, mKIAA1563, PLSJ, si:dkey-33m14.1

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
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