ALS2 explained
Alsin is a protein that in humans is encoded by the ALS2 gene.[1] [2] ALS2 orthologs[3] have been identified in all mammals for which complete genome data are available.
See also
Further reading
- Hadano S . [Causative genes for familial amyotrophic lateral sclerosis] . Seikagaku . 74 . 6 . 483–9 . 2002 . 12138710 .
- Nakajima D . Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones . DNA Res. . 9 . 3 . 99–106 . 2003 . 12168954 . 10.1093/dnares/9.3.99 . vanc . Okazaki N . Yamakawa H . 3 . Kikuno . R . Ohara . O . Nagase . T . free .
- Hadano S . A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34 . Genomics . 55 . 1 . 106–12 . 1999 . 9889004 . 10.1006/geno.1998.5637 . vanc . Nichol K . Brinkman RR . 3 . Nasir . J . Martindale . D . Koop . BF . Nicholson . DW . Scherer . SW . Ikeda . JE .
- Hosler BA . Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33 . Neurogenetics . 2 . 1 . 34–42 . 2000 . 9933298 . 10.1007/s100480050049 . vanc . Sapp PC . Berger R . 3 . O'Neill . Gilmore . Bejaoui . Khemissa . Hamida . Mongi Ben . Hentati . Faycal . Chin . Wendy . McKenna-Yasek . Diane . 33368578 .
- Nagase T . 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 . DNA Res. . 7 . 4 . 273–81 . 2001 . 10997877 . 10.1093/dnares/7.4.271. vanc . Kikuno R . Nakayama M . 3 . Hirosawa . M . Ohara . O . free .
- Yang Y . The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis . Nat. Genet. . 29 . 2 . 160–5 . 2001 . 11586297 . 10.1038/ng1001-160 . vanc . Hentati A . Deng HX . 3 . Dabbagh . Omar . Sasaki . Toru . Hirano . Makito . Hung . Wu-Yen . Ouahchi . Karim . Yan . Jianhua . 9036123 .
- Birkenhäger R . Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure . Nat. Genet. . 29 . 3 . 310–4 . 2001 . 11687798 . 10.1038/ng752 . vanc . Otto E . Schürmann MJ . 3 . Vollmer . Martin . Ruf . Eva-Maria . Maier-Lutz . Irina . Beekmann . Frank . Fekete . Andrea . Omran . Heymut . 5892001 .
- Eymard-Pierre E . Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene . Am. J. Hum. Genet. . 71 . 3 . 518–27 . 2002 . 12145748 . 10.1086/342359 . 379189 . vanc . Lesca G . Dollet S . 3 . Santorelli . Filippo Maria . Di Capua . Matteo . Bertini . Enrico . Boespflug-Tanguy . Odile .
- Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc . Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
- Lesca G . Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families . Neurology . 60 . 4 . 674–82 . 2004 . 12601111 . 10.1212/01.wnl.0000048207.28790.25. vanc . Eymard-Pierre E . Santorelli FM . 3 . Cusmai . R . Di Capua . M . Valente . EM . Attia-Sobol . J . Plauchu . H . Leuzzi . V . 20968387 .
- Otomo A . ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics . Hum. Mol. Genet. . 12 . 14 . 1671–87 . 2003 . 12837691 . 10.1093/hmg/ddg184 . vanc . Hadano S . Okada T . 3 . Mizumura . H . Kunita . R . Nishijima . H . Showguchi-Miyata . J . Yanagisawa . Y . Kohiki . E . free .
- Nagano I . Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis . Neurol. Res. . 25 . 5 . 505–9 . 2003 . 12866199 . 10.1179/016164103101201733 . vanc . Murakami T . Shiote M . 3 . Manabe . Yasuhiro . Hadano . Shinji . Yanagisawa . Yoshiko . Ikeda . Joh-E . Abe . Koji . 42350605 .
- Devon RS . The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings . Clin. Genet. . 64 . 3 . 210–5 . 2004 . 12919135 . 10.1034/j.1399-0004.2003.00138.x . vanc . Helm JR . Rouleau GA . 3 . Leitner . Y . Lerman-Sagie . T . Lev . D . Hayden . MR . 27423316 .
- Yamanaka K . Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease . Proc. Natl. Acad. Sci. U.S.A. . 100 . 26 . 16041–6 . 2004 . 14668431 . 10.1073/pnas.2635267100 . 307689 . vanc . Vande Velde C . Eymard-Pierre E . 3 . Bertini . E . Boespflug-Tanguy . O . Cleveland . DW . free .
- Hand CK . Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis . Arch. Neurol. . 60 . 12 . 1768–71 . 2004 . 14676054 . 10.1001/archneur.60.12.1768 . vanc . Devon RS . Gros-Louis F . 3 . Rochefort . D . Khoris . J . Meininger . V . Bouchard . JP . Camu . W . Hayden . MR .
- Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc . Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
- Kanekura K . Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants . J. Biol. Chem. . 279 . 18 . 19247–56 . 2004 . 14970233 . 10.1074/jbc.M313236200 . vanc . Hashimoto Y . Niikura T . 3 . Aiso . S . Matsuoka . M . Nishimoto . I . free .
External links
Notes and References
- 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 . A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 . Nat Genet . 29 . 2 . 166–73 . Oct 2001 . 11586298 . 10.1038/ng1001-166 . 52828189 .
- Web site: Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile).
- Web site: OrthoMaM phylogenetic marker: ALS2 coding sequence . 2009-12-09 . https://web.archive.org/web/20160304031500/http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml . 2016-03-04 . dead .