ALS2 | definition of ALS2 by Medical dictionary
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ALS2 A gene on chromosome 2q33.1 that encodes a protein that functions as a guanine nucleotide exchange factor for the small GTPase RAB5; it localises with RAB5 on early endosomal compartments, and modulates endosomal dynamics.
ALS2 mutations have been linked to forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis.
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References in periodicals archive
Winter et al., "Novel mutation in the ALS2
gene in juvenile amyotrophic lateral sclerosis," Annals of Neurology, vol.
Abbreviations SOD1: Superoxide dismutase 1 ALS2
: Alsin SETX: Senataxin SPG11: Spastic paraplegia 11 FUS: Fused in sarcoma RNA binding protein VAMP: Vesicle-associated membrane protein VAPB: Associated protein B and C ANG: Angiogenin TARDBP: TAR DNA-binding protein FIG4: FIG4 phosphoinositide 5-phosphatase OPTN: Optineurin ATXN2: Ataxin-2 C9ORF72: Chromosome 9 open reading frame 72 VEGF: Vascular endothelial growth factor IFN-[gamma]: Interferon gamma TNF-[alpha]: Tumor necrosis factor ILs: Interleukins IL-1[beta]: Interleukin 1 beta UBC: Ubiquitin C TBK1: TANK-binding kinase 1 SQSTM1: Sequestosome 1 DCTN1: Dynactin subunit 1 IMPAS-1: Histocompatibility minor 13.
Hecht, "Identification of Candida albicans ALS2
and ALS4 and localization of Als proteins to the fungal cell surface," Journal of Bacteriology, vol.