rs370296035

This variant is located in the ALS2 gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

Hereditary spastic paraplegia; Infantile-onset ascending hereditary spastic paralysis; Inborn genetic diseases

About 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. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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