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.
仕様
Size：50ul
抗体種類：Pab
宿主：mouse
Source Antibody：human
Grade：Ascites
Purity：Ascites
Form：Supplied as a liquid. No preservative added.
Specificity：Recognizes human ALS2.
Isotype：IgG
Calc Applications Abbrev：WB
Calc Crossreactivity：Hu
Immunogen：ALS2 (AAH71576.1, 1aa-1237aa) full-length human protein.
