BC029174
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
86,782 Da
NCBI Official Full Name
Homo sapiens amyotrophic lateral sclerosis 2 (juvenile), mRNA
NCBI Official Synonym Full Names
ALS2, alsin Rho guanine nucleotide exchange factor
NCBI Protein Information
alsin
UniProt Protein Name
Alsin
UniProt Synonym Protein Names
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; Amyotrophic lateral sclerosis 2 protein
UniProt Synonym Gene Names
NCBI Summary for 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]
UniProt Comments for ALS2
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons ().
Product References and Citations for anti-ALS2 antibody
(1) Rose, J.E., Behm, F.M., Drgon, T., et al. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Mol. Med. 16 (7-8), 247-253 (2010).
Research Articles on ALS2
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Products associated with anti-ALS2 antibody
Pathways associated with anti-ALS2 antibody
Diseases associated with anti-ALS2 antibody
Organs/Tissues associated with anti-ALS2 antibody
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