ALS2
amyotrophic lateral sclerosis 2 (juvenile)
Synonyms:
ALS2CR6, ALSJ, IAHSP, PLSJ
Species:
Human ALS2 (57679), Mouse Als2 (74018), Rat Als2 (363235), naked mole-rat Als2 (101698373), cow ALS2 (535750), Domestic Rabbit ALS2 (100345931), sheep ALS2 (101109592), domestic cat ALS2 (101094869), dog ALS2 (478872), domestic guinea pig Als2 (100717157)
UniProtKB ID:
Gene ID:
- Human(57679) 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. [provided by RefSeq, Oct 2008]
- Mouse(74018) amyotrophic lateral sclerosis 2 (juvenile)
- Rat(363235) amyotrophic lateral sclerosis 2 (juvenile)
- naked mole-rat(101698373) amyotrophic lateral sclerosis 2 (juvenile)
- cow(535750) amyotrophic lateral sclerosis 2 (juvenile)
- Domestic Rabbit(100345931) amyotrophic lateral sclerosis 2 (juvenile)
- sheep(101109592) amyotrophic lateral sclerosis 2 (juvenile)
- domestic cat(101094869) amyotrophic lateral sclerosis 2 (juvenile)
- dog(478872) amyotrophic lateral sclerosis 2 (juvenile)
- domestic guinea pig(100717157) amyotrophic lateral sclerosis 2 (juvenile)
- chicken(424085) amyotrophic lateral sclerosis 2 (juvenile)
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-ALS2 (N-terminal region) antibody produced in rabbit, ~1.5 mg/mL, affinity isolated antibody,
Species Reactivity
Application
immunofluorescence
western blot
western blot