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021-54845833/15800441009
中文名称：ALS2 抗原（重组蛋白）
英文名称： ALS2 Antigen (Recombinant Protein)
别 名： amyotrophic lateral sclerosis 2 (juvenile); ALSJ; PLSJ; IAHSP; ALS2CR6
储 存： 冷冻（-20℃）
相关类别： 抗原
概 述：
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Fusion protein corresponding to C terminal 250 amino acids of human ALS2 |
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Full name: |
amyotrophic lateral sclerosis 2 (juvenile) |
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Synonyms: |
ALSJ; PLSJ; IAHSP; ALS2CR6 |
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Swissprot: |
Q96Q42 |
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Gene Accession: |
BC029174 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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Background: |
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. |
