Biology:Torsin A

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Torsin-1A (TorA) also known as dystonia 1 protein (DYT1) is a protein that in humans is encoded by the TOR1A gene (also known as DQ2 or DYT1). TorA localizes to the endoplasmic reticulum and contiguous perinuclear space, where its ATPase activity is activated by either LULL1 or LAP1, respectively.

Function

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.

Clinical significance

Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1.

Further reading

• "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. 1998. PMID 9750906. 
• "TorsinA, microtubules and cell polarity.". Funct. Neurol. 18 (1): 7–10. 2003. PMID 12760408. 
• "Physiological studies in carriers of the DYT1 gene mutation.". Rev. Neurol. (Paris) 159 (10 Pt 1): 880–4. 2004. PMID 14615676. 
• "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.". Nat. Genet. 17 (1): 40–8. 1997. doi:10.1038/ng0997-40. PMID 9288096. 
• "Expression of the early-onset torsion dystonia gene (DYT1) in human brain.". Ann. Neurol. 43 (5): 669–73. 1998. doi:10.1002/ana.410430518. PMID 9585364. 
• "GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.". Mov. Disord. 14 (4): 681–3. 1999. doi:10.1002/1531-8257(199907)14:4<681::AID-MDS1020>3.0.CO;2-M. PMID 10435508. 
• "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. 1999. doi:10.1007/s100480050082. PMID 10541594. 
• "Immunohistochemical localization and distribution of torsinA in normal human and rat brain.". Brain Res. 853 (2): 197–206. 2000. doi:10.1016/S0006-8993(99)02232-5. PMID 10640617. 
• "Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.". Hum. Mol. Genet. 9 (9): 1403–13. 2000. doi:10.1093/hmg/9.9.1403. PMID 10814722. 
• "Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations.". J. Biol. Chem. 275 (36): 27933–9. 2000. doi:10.1074/jbc.M910025199. PMID 10871631. 
• "Identification and characterization of the potential promoter regions of 1031 kinds of human genes.". Genome Res. 11 (5): 677–84. 2001. doi:10.1101/gr.gr-1640r. PMID 11337467. 
• "Cellular distribution of torsin A and torsin B in normal human brain.". Arch. Neurol. 58 (6): 921–7. 2001. doi:10.1001/archneur.58.6.921. PMID 11405807. 
• "A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study.". Am. J. Pathol. 159 (1): 339–44. 2001. doi:10.1016/s0002-9440(10)61700-2. PMID 11438481. 
• "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. 2002. doi:10.1007/s100480100111. PMID 11523564. 
• "No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia.". J. Med. Genet. 38 (10): 35e–35. 2002. doi:10.1136/jmg.38.10.e35. PMID 11584049. 
• "DYT1 mutation in primary torsion dystonia in a Serbian population.". J. Neurol. 248 (11): 940–3. 2002. doi:10.1007/s004150170045. PMID 11757956. 
• "Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.". Neurology 58 (7): 1031–7. 2002. doi:10.1212/wnl.58.7.1031. PMID 11940688. 
• "Inherited and de novo mutations in sporadic cases of DYT1-dystonia.". Eur. J. Hum. Genet. 10 (3): 213–6. 2002. doi:10.1038/sj.ejhg.5200782. PMID 11973627. 

External links

• GeneReview/NIH/UW entry on Early-Onset Primary Dystonia

This article incorporates text from the United States National Library of Medicine, which is in the public domain.