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ALS2
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<h2 id="see-also">See also</h2> <ul><li><a href="/facts/Juvenile_primary_lateral_sclerosis/4J3AgBfr">Juvenile primary lateral sclerosis</a></li> <li><a href="/facts/Amyotrophic_lateral_sclerosis/9fIXnNL4">Amyotrophic lateral sclerosis</a></li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Hadano S (2002). "[Causative genes for familial amyotrophic lateral sclerosis]". <i>Seikagaku</i>. 74 (6): 483–9. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12138710">12138710</a>.</li> <li>Nakajima D, Okazaki N, Yamakawa H, et al. (2003). <a href="https://doi.org/10.1093%2Fdnares%2F9.3.99">"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones"</a>. <i>DNA Res</i>. 9 (3): 99–106. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fdnares%2F9.3.99">10.1093/dnares/9.3.99</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12168954">12168954</a>.</li> <li>Hadano S, Nichol K, Brinkman RR, et al. (1999). "A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34". <i>Genomics</i>. 55 (1): 106–12. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1998.5637">10.1006/geno.1998.5637</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9889004">9889004</a>.</li> <li>Hosler BA, Sapp PC, Berger R, et al. (2000). "Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33". <i>Neurogenetics</i>. 2 (1): 34–42. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2Fs100480050049">10.1007/s100480050049</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9933298">9933298</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:33368578">33368578</a>.</li> <li>Nagase T, Kikuno R, Nakayama M, et al. (2001). <a href="https://doi.org/10.1093%2Fdnares%2F7.4.271">"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro"</a>. <i>DNA Res</i>. 7 (4): 273–81. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fdnares%2F7.4.271">10.1093/dnares/7.4.271</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10997877">10997877</a>.</li> <li>Yang Y, Hentati A, Deng HX, et al. (2001). "The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis". <i>Nat. Genet</i>. 29 (2): 160–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1001-160">10.1038/ng1001-160</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11586297">11586297</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:9036123">9036123</a>.</li> <li>Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". <i>Nat. Genet</i>. 29 (3): 310–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng752">10.1038/ng752</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11687798">11687798</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:5892001">5892001</a>.</li> <li>Eymard-Pierre E, Lesca G, Dollet S, et al. (2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC379189">"Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene"</a>. <i>Am. J. Hum. Genet</i>. 71 (3): 518–27. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1086%2F342359">10.1086/342359</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC379189">379189</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12145748">12145748</a>.</li> <li>Strausberg RL, Feingold EA, Grouse LH, et al. (2003). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 99 (26): 16899–903. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2002PNAS...9916899M">2002PNAS...9916899M</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.242603899">10.1073/pnas.242603899</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC139241">139241</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12477932">12477932</a>.</li> <li>Lesca G, Eymard-Pierre E, Santorelli FM, et al. (2004). "Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families". <i>Neurology</i>. 60 (4): 674–82. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1212%2F01.wnl.0000048207.28790.25">10.1212/01.wnl.0000048207.28790.25</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12601111">12601111</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:20968387">20968387</a>.</li> <li>Otomo A, Hadano S, Okada T, et al. (2003). <a href="https://doi.org/10.1093%2Fhmg%2Fddg184">"ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics"</a>. <i>Hum. Mol. Genet</i>. 12 (14): 1671–87. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fhmg%2Fddg184">10.1093/hmg/ddg184</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12837691">12837691</a>.</li> <li>Nagano I, Murakami T, Shiote M, et al. (2003). "Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis". <i>Neurol. Res</i>. 25 (5): 505–9. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1179%2F016164103101201733">10.1179/016164103101201733</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12866199">12866199</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:42350605">42350605</a>.</li> <li>Devon RS, Helm JR, Rouleau GA, et al. (2004). "The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings". <i>Clin. Genet</i>. 64 (3): 210–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1034%2Fj.1399-0004.2003.00138.x">10.1034/j.1399-0004.2003.00138.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12919135">12919135</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:27423316">27423316</a>.</li> <li>Yamanaka K, Vande Velde C, Eymard-Pierre E, et al. (2004). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC307689">"Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease"</a>. <i>Proc. Natl. Acad. Sci. U.S.A</i>. 100 (26): 16041–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.2635267100">10.1073/pnas.2635267100</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC307689">307689</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14668431">14668431</a>.</li> <li>Hand CK, Devon RS, Gros-Louis F, et al. (2004). "Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis". <i>Arch. Neurol</i>. 60 (12): 1768–71. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1001%2Farchneur.60.12.1768">10.1001/archneur.60.12.1768</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14676054">14676054</a>.</li> <li>Ota T, Suzuki Y, Nishikawa T, et al. (2004). <a href="https://doi.org/10.1038%2Fng1285">"Complete sequencing and characterization of 21,243 full-length human cDNAs"</a>. <i>Nat. Genet</i>. 36 (1): 40–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1285">10.1038/ng1285</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14702039">14702039</a>.</li> <li>Kanekura K, Hashimoto Y, Niikura T, et al. (2004). <a href="https://doi.org/10.1074%2Fjbc.M313236200">"Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants"</a>. <i>J. Biol. Chem</i>. 279 (18): 19247–56. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M313236200">10.1074/jbc.M313236200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14970233">14970233</a>.</li></ul> <h2 id="external-links">External links</h2> <ul><li><a href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=iahsp">GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/omim/205100,606352,606353,607225,205100,606352,606353,607225">OMIM entries on ALS2-Related Disorders</a></li> <li><a href="http://ghr.nlm.nih.gov/gene/ALS2">Genetics Home Reference- US National Library of Medicine</a></li> <li>Human <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=ALS2"><i>ALS2</i></a> genome location and <a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=ALS2"><i>ALS2</i></a> gene details page in the <a href="/facts/UCSC_Genome_Browser/kwumPyLb">UCSC Genome Browser</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298. S2CID 52828189. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"OrthoMaM phylogenetic marker: ALS2 coding sequence". Archived from the original on 2016-03-04. Retrieved 2009-12-09. <a href="https://web.archive.org/web/20160304031500/http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml" target="_blank">https://web.archive.org/web/20160304031500/http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> </ol>