GeneID: 223



Names

Common Name: TOR2A Type: Gene
Chromosome: 9 (NC_000009.12) Locus: NG_030463.1 (TOR2A)
HUGO Symbol: TOR2A Full Name: torsin family 2 member A
Exons: 5 Introns: 4

Description:
TOR2A belongs to the torsin gene family, members of which have been implicated in the development of dystonia syndromes. Torsin-related proteins share functional domains with heat shock proteins, Clp proteases and the AAA+ (ATPase-associated with a variety of cellular activities) family of chaperone-like proteins. These proteins likely perform ATP-dependent chaperone-like functions that assist in membrane trafficking and vesicle fusion. They are expressed in the brain during prenatal and postnatal development. Alternative splicing generates a 242-amino-acid precursor termed preprosalusin, which is processed into two related peptides of 28- and 20-amino acids designated salusin-α and salusin-β, respectively. Salusins have potent hemodynamic and mitogenic activities, and have been implicated in the pathogenesis of atherosclerosis. A polymorphism in this gene associated with glomerular filtration rate in pediatric patients with sickle cell disease.

Synonyms: TORP1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Neuwald AF, Aravind L, Spouge JL, Koonin EV, AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes., Genome Res. , 9(1), 27-43, 1999 PubMed
  2. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO, The TOR1A (DYT1) gene family and its role in early onset torsion dystonia., Genomics , 62(3), 377-84, 1999 PubMed
  3. Shichiri M, Ishimaru S, Ota T, Nishikawa T, Isogai T, Hirata Y, Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities., Nat. Med. , 9(9), 1166-72, 2003 PubMed
  4. Vasudevan A, Breakefield XO, Bhide PG, Developmental patterns of torsinA and torsinB expression., Brain Res. , 1073(0), 139-45, 2006 PubMed
  5. Watanabe T, Nishio K, Kanome T, Matsuyama TA, Koba S, Sakai T, Sato K, Hongo S, Nose K, Ota H, Kobayashi Y, Katagiri T, Shichiri M, Miyazaki A, Impact of salusin-alpha and -beta on human macrophage foam cell formation and coronary atherosclerosis., Circulation , 117(5), 638-48, 2008 PubMed
  6. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
Created on 2017-03-20 16:07:09, Last reviewed on 2017-03-21 10:11:00 (Show full history)


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