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ALS2 ALS2, alsin Rho guanine nucleotide exchange factor

Also known as: ALSJ; PLSJ; IAHSP; ALS2CR6

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]

Genomic context

Location:
2q33.1
Sequence:
Chromosome: 2; NC_000002.12 (201700263..201781172, complement)
Total number of exons:
38

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