LP190760-1

ALS2 gene

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Description

The ALS2 gene (amyotrophic lateral sclerosis 2) [HGNC Gene ID: 443] is located on chromosome 2q33.1. 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][NCBI Gene ID: 57679] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

ALS2 gene

Part Display Name

ALS2 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2015-04-30

Construct for LOINC Short Name

ALS2 gene

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