KEGG   VARIANT: 7156v1
Entry
7156v1                      Variant                                
Name
TOP3A mutation
Type
Loss of function
Gene
TOP3A  DNA topoisomerase III alpha [KO:K03165]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601243
Network
nt06506  Double-strand break repair
Disease
H01395  Autosomal recessive progressive external ophthalmoplegia
H02492  Microcephaly, growth restriction, and increased sister chromatid exchange
Reference
  Authors
Martin CA, Sarlos K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmuller J, Aza-Carmona M, Barakat BAY, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nurnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP
  Title
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
  Journal
Am J Hum Genet 103:221-231 (2018)
DOI:10.1016/j.ajhg.2018.07.001
Reference
  Authors
Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM
  Title
Topoisomerase 3alpha Is Required for Decatenation and Segregation of Human mtDNA.
  Journal
Mol Cell 69:9-23.e6 (2018)
DOI:10.1016/j.molcel.2017.11.033
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