Reactivities: | Human |
Presku: | AAP57487 |
Size: | 100ug |
Weight: | 184kDa |
Gene: | 57679 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | ALS2CR6; ALSJ; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ |