Als2 Products

Description

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]

Bioinformatics

Entrez	57679 Human
Uniprot	AAH29174 Human
Product By Gene ID	57679
Alternate Names	ALS2CR6 alsin ALSJ amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6 amyotrophic lateral sclerosis 2 (juvenile) Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein Amyotrophic lateral sclerosis 2 protein FLJ31851 IAHSP KIAA1563 MGC87187 PLSJ

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Amyotrophic Lateral Sclerosis Infographic Amyotrophic lateral sclerosis is a neurological disease which impacts motor neurons that are involved in muscle movement throughout the body. The progressive degeneration of neurons causes weakened muscles and can lead to paralysis. There is no cure f...    Read more.

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