View source for ALS2

{{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/sites/entrez?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.
==See also==
* [[Juvenile primary lateral sclerosis]]
* [[Amyotrophic lateral sclerosis]]
==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/bookshelf/br.fcgi?book=gene&part=iahsp  GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders]
* [https://www.ncbi.nlm.nih.gov/omim/205100,606352,606353,607225,205100,606352,606353,607225  OMIM entries on ALS2-Related Disorders]
*[http://ghr.nlm.nih.gov/gene/ALS2   Genetics Home Reference- US National Library of Medicine]
* {{UCSC gene info|ALS2}}
{{GTP-binding protein regulators}}
{{gene-2-stub}}