ALS2 — Mediated Wiki

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Alsin''' is a protein that in humans is encoded by the ''ALS2'' gene.<ref name="pmid11586298">{{cite journal |vauthors=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 | title = A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 | journal = Nat Genet | volume = 29 | issue = 2 | pages = 166–73 |date=Oct 2001 | pmid = 11586298 | doi = 10.1038/ng1001-166 | s2cid = 52828189 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=57679}}</ref> ''ALS2'' orthologs<ref name="OrthoMaM">{{cite web | title = OrthoMaM phylogenetic marker: ALS2 coding sequence | url = http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml | access-date = 2009-12-09 | archive-url = https://web.archive.org/web/20160304031500/http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml | archive-date = 2016-03-04 | url-status = dead }}</ref> have been identified in all mammals for which complete genome data are available.

==References== {{reflist}}

==Further reading== {{refbegin | 2}} *{{cite journal | author=Hadano S |title=[Causative genes for familial amyotrophic lateral sclerosis] |journal=Seikagaku |volume=74 |issue= 6 |pages= 483–9 |year= 2002 |pmid= 12138710 }} *{{cite journal | author=Nakajima D |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 | name-list-style=vanc | author2=Okazaki N | author3=Yamakawa H | display-authors=3 | last4=Kikuno | first4=R | last5=Ohara | first5=O | last6=Nagase | first6=T | doi-access=free }} *{{cite journal | author=Hadano S |title=A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34 |journal=Genomics |volume=55 |issue= 1 |pages= 106–12 |year= 1999 |pmid= 9889004 |doi= 10.1006/geno.1998.5637 | name-list-style=vanc | author2=Nichol K | author3=Brinkman RR | display-authors=3 | last4=Nasir | first4=J | last5=Martindale | first5=D | last6=Koop | first6=BF | last7=Nicholson | first7=DW | last8=Scherer | first8=SW | last9=Ikeda | first9=JE }} *{{cite journal | author=Hosler BA |title=Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33 |journal=Neurogenetics |volume=2 |issue= 1 |pages= 34–42 |year= 2000 |pmid= 9933298 |doi=10.1007/s100480050049 | name-list-style=vanc | author2=Sapp PC | author3=Berger R | display-authors=3 | last4=O'Neill | first4=Gilmore | last5=Bejaoui | first5=Khemissa | last6=Hamida | first6=Mongi Ben | last7=Hentati | first7=Faycal | last8=Chin | first8=Wendy | last9=McKenna-Yasek | first9=Diane |s2cid=33368578 }} *{{cite journal | author=Nagase T |title=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 |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi= 10.1093/dnares/7.4.271| name-list-style=vanc | author2=Kikuno R | author3=Nakayama M | display-authors=3 | last4=Hirosawa | first4=M | last5=Ohara | first5=O | doi-access=free }} *{{cite journal | author=Yang Y |title=The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 160–5 |year= 2001 |pmid= 11586297 |doi= 10.1038/ng1001-160 | name-list-style=vanc | author2=Hentati A | author3=Deng HX | display-authors=3 | last4=Dabbagh | first4=Omar | last5=Sasaki | first5=Toru | last6=Hirano | first6=Makito | last7=Hung | first7=Wu-Yen | last8=Ouahchi | first8=Karim | last9=Yan | first9=Jianhua |s2cid=9036123 }} *{{cite journal | author=Birkenhäger R |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310–4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752 | name-list-style=vanc | author2=Otto E | author3=Schürmann MJ | display-authors=3 | last4=Vollmer | first4=Martin | last5=Ruf | first5=Eva-Maria | last6=Maier-Lutz | first6=Irina | last7=Beekmann | first7=Frank | last8=Fekete | first8=Andrea | last9=Omran | first9=Heymut |s2cid=5892001 }} *{{cite journal | author=Eymard-Pierre E |title=Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 518–27 |year= 2002 |pmid= 12145748 |doi=10.1086/342359 | pmc=379189 | name-list-style=vanc | author2=Lesca G | author3=Dollet S | display-authors=3 | last4=Santorelli | first4=Filippo Maria | last5=Di Capua | first5=Matteo | last6=Bertini | first6=Enrico | last7=Boespflug-Tanguy | first7=Odile }} *{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | name-list-style=vanc | author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }} *{{cite journal | author=Lesca G |title=Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families |journal=Neurology |volume=60 |issue= 4 |pages= 674–82 |year= 2004 |pmid= 12601111 |doi= 10.1212/01.wnl.0000048207.28790.25| name-list-style=vanc | author2=Eymard-Pierre E | author3=Santorelli FM | display-authors=3 | last4=Cusmai | first4=R | last5=Di Capua | first5=M | last6=Valente | first6=EM | last7=Attia-Sobol | first7=J | last8=Plauchu | first8=H | last9=Leuzzi | first9=V |s2cid=20968387 }} *{{cite journal | author=Otomo A |title=ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1671–87 |year= 2003 |pmid= 12837691 |doi=10.1093/hmg/ddg184 | name-list-style=vanc | author2=Hadano S | author3=Okada T | display-authors=3 | last4=Mizumura | first4=H | last5=Kunita | first5=R | last6=Nishijima | first6=H | last7=Showguchi-Miyata | first7=J | last8=Yanagisawa | first8=Y | last9=Kohiki | first9=E | doi-access=free }} *{{cite journal | author=Nagano I |title=Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis |journal=Neurol. Res. |volume=25 |issue= 5 |pages= 505–9 |year= 2003 |pmid= 12866199 |doi=10.1179/016164103101201733 | name-list-style=vanc | author2=Murakami T | author3=Shiote M | display-authors=3 | last4=Manabe | first4=Yasuhiro | last5=Hadano | first5=Shinji | last6=Yanagisawa | first6=Yoshiko | last7=Ikeda | first7=Joh-E | last8=Abe | first8=Koji |s2cid=42350605 }} *{{cite journal | author=Devon RS |title=The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 210–5 |year= 2004 |pmid= 12919135 |doi=10.1034/j.1399-0004.2003.00138.x | name-list-style=vanc | author2=Helm JR | author3=Rouleau GA | display-authors=3 | last4=Leitner | first4=Y | last5=Lerman-Sagie | first5=T | last6=Lev | first6=D | last7=Hayden | first7=MR |s2cid=27423316 }} *{{cite journal | author=Yamanaka K |title=Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 26 |pages= 16041–6 |year= 2004 |pmid= 14668431 |doi= 10.1073/pnas.2635267100 | pmc=307689 | name-list-style=vanc | author2=Vande Velde C | author3=Eymard-Pierre E | display-authors=3 | last4=Bertini | first4=E | last5=Boespflug-Tanguy | first5=O | last6=Cleveland | first6=DW |doi-access=free }} *{{cite journal | author=Hand CK |title=Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis |journal=Arch. Neurol. |volume=60 |issue= 12 |pages= 1768–71 |year= 2004 |pmid= 14676054 |doi= 10.1001/archneur.60.12.1768 | name-list-style=vanc | author2=Devon RS | author3=Gros-Louis F | display-authors=3 | last4=Rochefort | first4=D | last5=Khoris | first5=J | last6=Meininger | first6=V | last7=Bouchard | first7=JP | last8=Camu | first8=W | last9=Hayden | first9=MR | doi-access= }} *{{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 | name-list-style=vanc | author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }} *{{cite journal | author=Kanekura K |title=Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants |journal=J. Biol. Chem. |volume=279 |issue= 18 |pages= 19247–56 |year= 2004 |pmid= 14970233 |doi= 10.1074/jbc.M313236200 | name-list-style=vanc | author2=Hashimoto Y | author3=Niikura T | display-authors=3 | last4=Aiso | first4=S | last5=Matsuoka | first5=M | last6=Nishimoto | first6=I | doi-access=free }} {{refend}}

==External links== *[https://www.ncbi.nlm.nih.gov/books/NBK1243/ GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders] * [https://archive.today/20121213231320/http://www.ncbi.nlm.nih.gov/omim/205100,606352,606353,607225,205100,606352,606353,607225 OMIM entries on ALS2-Related Disorders] *[https://medlineplus.gov/genetics/gene/als2/ Genetics Home Reference- US National Library of Medicine] * {{UCSC gene info|ALS2}}