概 述：
|
Full name: |
amyotrophic lateral sclerosis 2 (juvenile) |
|
Synonyms: |
ALSJ; PLSJ; IAHSP; ALS2CR6 |
|
Swissprot: |
Q96Q42 |
|
Gene Accession: |
BC029174 |
|
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
|
Expression system: |
Escherichia coli |
|
Tags: |
His tag C-Terminus, GST tag N-Terminus |
|
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. |
