Torsin A
| Torsin family 1, member A (torsin A) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | TOR1A ; DQ2; DYT1; torsin A | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 37263 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE TOR1A 202348 s at tn.png | |||||||||||
| File:PBB GE TOR1A 202349 at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Torsin family 1, member A (torsin A), also known as TOR1A, is a human gene.
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.[1]
See also
References
Further reading
- Ozelius LJ, Hewett JW, Page CE; et al. (1998). "The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family". Advances in neurology. 78: 93–105. PMID 9750906.
- Ferrari Toninelli G, Spano P, Memo M (2003). "TorsinA, microtubules and cell polarity". Funct. Neurol. 18 (1): 7–10. PMID 12760408.
- Rothwell JC, Edwards M, Huang YZ, Bhatia KP (2004). "Physiological studies in carriers of the DYT1 gene mutation". Rev. Neurol. (Paris). 159 (10 Pt 1): 880–4. PMID 14615676.
- Ozelius LJ, Hewett JW, Page CE; et al. (1997). "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein". Nat. Genet. 17 (1): 40–8. doi:10.1038/ng0997-40. PMID 9288096.
- Augood SJ, Penney JB, Friberg IK; et al. (1998). "Expression of the early-onset torsion dystonia gene (DYT1) in human brain". Ann. Neurol. 43 (5): 669–73. doi:10.1002/ana.410430518. PMID 9585364.
- Kamm C, Castelon-Konkiewitz E, Naumann M; et al. (1999). "GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany". Mov. Disord. 14 (4): 681–3. PMID 10435508.
- Ikeuchi T, Shimohata T, Nakano R; et al. (1999). "A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation". Neurogenetics. 2 (3): 189–90. PMID 10541594.
- Shashidharan P, Kramer BC, Walker RH; et al. (2000). "Immunohistochemical localization and distribution of torsinA in normal human and rat brain". Brain Res. 853 (2): 197–206. PMID 10640617.
- Ozelius LJ, Page CE, Klein C; et al. (2000). "The TOR1A (DYT1) gene family and its role in early onset torsion dystonia". Genomics. 62 (3): 377–84. doi:10.1006/geno.1999.6039. PMID 10644435.
- Hewett J, Gonzalez-Agosti C, Slater D; et al. (2000). "Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells". Hum. Mol. Genet. 9 (9): 1403–13. PMID 10814722.
- Kustedjo K, Bracey MH, Cravatt BF (2000). "Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations". J. Biol. Chem. 275 (36): 27933–9. doi:10.1074/jbc.M910025199. PMID 10871631.
- Suzuki Y, Tsunoda T, Sese J; et al. (2001). "Identification and characterization of the potential promoter regions of 1031 kinds of human genes". Genome Res. 11 (5): 677–84. doi:10.1101/gr.164001. PMID 11337467.
- Konakova M, Huynh DP, Yong W, Pulst SM (2001). "Cellular distribution of torsin A and torsin B in normal human brain". Arch. Neurol. 58 (6): 921–7. PMID 11405807.
- Sharma N, Hewett J, Ozelius LJ; et al. (2001). "A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study". Am. J. Pathol. 159 (1): 339–44. PMID 11438481.
- Leung JC, Klein C, Friedman J; et al. (2002). "Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism". Neurogenetics. 3 (3): 133–43. PMID 11523564.
- Tuffery-Giraud S, Cavalier L, Roubertie A; et al. (2002). "No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia". J. Med. Genet. 38 (10): E35. PMID 11584049.
- Major T, Svetel M, Romac S, Kostić VS (2002). "DYT1 mutation in primary torsion dystonia in a Serbian population". J. Neurol. 248 (11): 940–3. PMID 11757956.
- Walker RH, Morgello S, Davidoff-Feldman B; et al. (2002). "Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions". Neurology. 58 (7): 1031–7. PMID 11940688.
- Hjermind LE, Werdelin LM, Sørensen SA (2002). "Inherited and de novo mutations in sporadic cases of DYT1-dystonia". Eur. J. Hum. Genet. 10 (3): 213–6. doi:10.1038/sj.ejhg.5200782. PMID 11973627.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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