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ALS2

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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, granulocytes)

Immune cell specificity

Group enriched (basophil, eosinophil)

Cell line specificity

Cell line enhanced (HMC-1)

Interaction

Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.

Molecular function

Guanine-nucleotide releasing factor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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