ALS2

From Wikipedia, the free encyclopedia

Amyotrophic lateral sclerosis 2 (juvenile)

Identifiers

ALS2; ALS2CR6; ALSJ; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ

External IDs

OMIM: 606352 MGI: 1921268 HomoloGene: 23264

Gene ontology
Molecular Function:	• guanyl-nucleotide exchange factor activity • Ran guanyl-nucleotide exchange factor activity • Rho guanyl-nucleotide exchange factor activity • Rab guanyl-nucleotide exchange factor activity
Cellular Component:	• intracellular • early endosome • cytosol • vesicular fraction
Biological Process:	• behavioral fear response • response to oxidative stress • endosome organization and biogenesis • locomotory behavior • regulation of Rho protein signal transduction

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_020919 (mRNA)
NP_065970 (protein)

NM_028717 (mRNA)
NP_082993 (protein)

Location

Chr 2: 202.27 - 202.35 Mb

n/a

Pubmed search

[1]

[2]

Amyotrophic lateral sclerosis 2 (juvenile), also known as ALS2, is a human gene.^[1]

[edit] References

^ Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile).

[edit] Further reading

Hadano S (2002). "[Causative genes for familial amyotrophic lateral sclerosis]". Seikagaku 74 (6): 483-9. PMID 12138710.
Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99-106. PMID 12168954.
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.". Genomics 55 (1): 106-12. doi:10.1006/geno.1998.5637. PMID 9889004.
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.". Neurogenetics 2 (1): 34-42. PMID 9933298.
Nagase T, Kikuno R, Nakayama M, et al. (2001). "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. PMID 10997877.
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.". Nat. Genet. 29 (2): 160-5. doi:10.1038/ng1001-160. PMID 11586297.
Hadano S, Hand CK, Osuga H, et al. (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.
Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.". Nat. Genet. 29 (3): 310-4. doi:10.1038/ng752. PMID 11687798.
Eymard-Pierre E, Lesca G, Dollet S, et al. (2002). "Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.". Am. J. Hum. Genet. 71 (3): 518-27. PMID 12145748.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Lesca G, Eymard-Pierre E, Santorelli FM, et al. (2004). "Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.". Neurology 60 (4): 674-82. PMID 12601111.
Otomo A, Hadano S, Okada T, et al. (2003). "ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics.". Hum. Mol. Genet. 12 (14): 1671-87. PMID 12837691.
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.". Neurol. Res. 25 (5): 505-9. PMID 12866199.
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.". Clin. Genet. 64 (3): 210-5. PMID 12919135.
Yamanaka K, Vande Velde C, Eymard-Pierre E, et al. (2004). "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. doi:10.1073/pnas.2635267100. PMID 14668431.
Hand CK, Devon RS, Gros-Louis F, et al. (2004). "Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.". Arch. Neurol. 60 (12): 1768-71. doi:10.1001/archneur.60.12.1768. PMID 14676054.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Kanekura K, Hashimoto Y, Niikura T, et al. (2004). "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. doi:10.1074/jbc.M313236200. PMID 14970233.