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| Cat.No | ACP12565 | Target Name | ALS2 |
|---|---|---|---|
| Form | Lyophilized powder | Expression System | Custom Production. Please inquire and provide the desire expression system. |
| Protein Length | Partial | Purity | >85% (SDS-PAGE) |
| Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q96Q42 |
|---|
Uniprot Id
Q96Q42
Target Species
Human
Target Name
ALS2
Target Full Name
Alsin
Target Function
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons.
Target Involvement
Amyotrophic lateral sclerosis 2 (ALS2); Juvenile primary lateral sclerosis (JPLS); Infantile-onset ascending spastic paralysis (IAHSP)
Target Synonyms
ALS 2; ALS2; ALS2_HUMAN; ALS2CR6; Alsin; ALSJ; Amyotrophic lateral sclerosis 2 (juvenile); Amyotrophic lateral sclerosis 2 (juvenile) chromosome region candidate 6; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein; Amyotrophic lateral sclerosis protein 2; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ
Target 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.
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