ATXN2

Ataxin 2, also known as ATXN2, is a human gene.

PBB_Summary
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summary_text = Mutations in ATXN2 cause spinocerebellar ataxia type 2 (SCA2). The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. SCA2 is caused by the expansion of a CAG repeat in the coding region of the ATXN2 gene producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 12, and it has been determined that the disease allele usually contains 34-52 CAG repeats, but can contain as few as 32 or more than 100. Normal alleles usually have 22 or 23 repeats, but can contain up to 31 repeats. A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain.cite web | title = Entrez Gene: ATXN2 ataxin 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6311| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Stevanin G, Dürr A, Brice A |title=Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 1 |pages= 4–18 |year= 2000 |pmid= 10713882 |doi= 10.1038/sj.ejhg.5200403
*cite journal | author=Gispert S, Twells R, Orozco G, "et al." |title=Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. |journal=Nat. Genet. |volume=4 |issue= 3 |pages= 295–9 |year= 1993 |pmid= 8358438 |doi= 10.1038/ng0793-295
*cite journal | author=Pulst SM, Nechiporuk A, Nechiporuk T, "et al." |title=Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 269–76 |year= 1996 |pmid= 8896555 |doi= 10.1038/ng1196-269
*cite journal | author=Sanpei K, Takano H, Igarashi S, "et al." |title=Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 277–84 |year= 1996 |pmid= 8896556 |doi= 10.1038/ng1196-277
*cite journal | author=Imbert G, Saudou F, Yvert G, "et al." |title=Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 285–91 |year= 1996 |pmid= 8896557 |doi= 10.1038/ng1196-285
*cite journal | author=Margolis RL, Abraham MR, Gatchell SB, "et al." |title=cDNAs with long CAG trinucleotide repeats from human brain. |journal=Hum. Genet. |volume=100 |issue= 1 |pages= 114–22 |year= 1997 |pmid= 9225980 |doi=
*cite journal | author=Sahba S, Nechiporuk A, Figueroa KP, "et al." |title=Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. |journal=Genomics |volume=47 |issue= 3 |pages= 359–64 |year= 1998 |pmid= 9480749 |doi= 10.1006/geno.1997.5131
*cite journal | author=Huynh DP, Del Bigio MR, Ho DH, Pulst SM |title=Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. |journal=Ann. Neurol. |volume=45 |issue= 2 |pages= 232–41 |year= 1999 |pmid= 9989626 |doi=
*cite journal | author=Huynh DP, Figueroa K, Hoang N, Pulst SM |title=Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. |journal=Nat. Genet. |volume=26 |issue= 1 |pages= 44–50 |year= 2000 |pmid= 10973246 |doi= 10.1038/79162
*cite journal | author=Affaitati A, de Cristofaro T, Feliciello A, Varrone S |title=Identification of alternative splicing of spinocerebellar ataxia type 2 gene. |journal=Gene |volume=267 |issue= 1 |pages= 89–93 |year= 2001 |pmid= 11311558 |doi=
*cite journal | author=Kiehl TR, Shibata H, Vo T, "et al." |title=Identification and expression of a mouse ortholog of A2BP1. |journal=Mamm. Genome |volume=12 |issue= 8 |pages= 595–601 |year= 2002 |pmid= 11471052 |doi=
*cite journal | author=Choudhry S, Mukerji M, Srivastava AK, "et al." |title=CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. |journal=Hum. Mol. Genet. |volume=10 |issue= 21 |pages= 2437–46 |year= 2002 |pmid= 11689490 |doi=
*cite journal | author=Pang JT, Giunti P, Chamberlain S, "et al." |title=Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. |journal=Brain |volume=125 |issue= Pt 3 |pages= 656–63 |year= 2002 |pmid= 11872620 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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
*cite journal | author=Satterfield TF, Jackson SM, Pallanck LJ |title=A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation. |journal=Genetics |volume=162 |issue= 4 |pages= 1687–702 |year= 2003 |pmid= 12524342 |doi=
*cite journal | author=Wiedemeyer R, Westermann F, Wittke I, "et al." |title=Ataxin-2 promotes apoptosis of human neuroblastoma cells. |journal=Oncogene |volume=22 |issue= 3 |pages= 401–11 |year= 2003 |pmid= 12545161 |doi= 10.1038/sj.onc.1206150
*cite journal | author=Payami H, Nutt J, Gancher S, "et al." |title=SCA2 may present as levodopa-responsive parkinsonism. |journal=Mov. Disord. |volume=18 |issue= 4 |pages= 425–9 |year= 2003 |pmid= 12671950 |doi= 10.1002/mds.10375
*cite journal | author=Svetel M, Djarmati A, Dragasević N, "et al." |title=SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism. |journal=Eur. J. Neurol. |volume=10 |issue= 5 |pages= 597 |year= 2003 |pmid= 12940846 |doi=
*cite journal | author=Brenneis C, Bösch SM, Schocke M, "et al." |title=Atrophy pattern in SCA2 determined by voxel-based morphometry. |journal=Neuroreport |volume=14 |issue= 14 |pages= 1799–802 |year= 2003 |pmid= 14534423 |doi= 10.1097/01.wnr.0000094105.16607.18

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