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ALS2 (ALSIN, amyotrophic lateral sclerosis 2 (juvenile), ALSJ, PLSJ, IAHSP, KIAA1563)

ALS2 (ALSIN, amyotrophic lateral sclerosis 2 (juvenile), ALSJ, PLSJ, IAHSP, KIAA1563)

Cat no: A1362-85A

Supplier: United States Biological
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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. Applications: Suitable for use in ELISA. Other applications not tested. Recommended Dilution: ELISA: 1:8000 Optimal dilutions to be determined by the researcher. Storage and Stability: May be stored at 4 degrees C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20 degrees C. Aliquots are stable for at least 12 months at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
Catalogue number: A1362-85A
Reactivities: Human, Mouse, Rat, Canine
Hosts: Goat
Applications: ELISA
Size: 100ug
Form: Supplied as a liquid in 0.5 mg/ml tris-saline, 0.02% sodium azide, pH 7.3, 0.5% BSA.
P type: Pab
Purity: Purified by immunoaffinity chromatography.
References: 1. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet. 2001 Oct;29(2):160-5.
Additional info: Recognizes ALS2. Species Crossreactivity: Canine, mouse and rat.

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