Torsin A

From Wikipedia, the free encyclopedia

Torsin family 1, member A (torsin A)

Identifiers

TOR1A; DQ2; DYT1; torsin A

External IDs

OMIM: 605204 MGI: 1353568 HomoloGene: 37263

Gene ontology
Molecular Function:	• nucleotide binding • ATP binding • endopeptidase Clp activity • unfolded protein binding
Cellular Component:	• cytoplasm • endoplasmic reticulum
Biological Process:	• protein folding • response to unfolded protein • chaperone cofactor-dependent protein folding

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000113 (mRNA)
NP_000104 (protein)

NM_144884 (mRNA)
NP_659133 (protein)

Location

Chr 9: 131.62 - 131.63 Mb

Chr 2: 30.78 - 30.79 Mb

Pubmed search

[1]

[2]

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]

[edit] See also

[edit] References

^ Entrez Gene: TOR1A torsin family 1, member A (torsin A).

[edit] 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.