Protein

Articles

• ATP13A2
  11 February 2008

  ATP13A2 belongs to the P-type superfamily of ATPases that transport inorganic cations and other substrates across cell membranes.
  Pathology
  germline mutations in early-onset parkinsonism with dementia close to Kufor-Rakeb syndrome (KRS) (MIM.606693)
  See also
  8 mutated Parkinson disease genes known (2008) SNCA PARK2 UCHL1 PINK1 DJ1 LRRK2 ATP13A2 HTRA2
  References
  Di Fonzo, A.; Chien, H. F.; Socal, M.; Giraudo, S.; Tassorelli, C.; Iliceto, G.; Fabbrini, F.; Marconi, R.; Fincati, (...)

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• SRY
  15 December 2004

  testis-determining gene SRY

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• TOP1
  20 July 2010

  topoisomerase (DNA) I

• huntingtin
  16 July 2003

  Huntingtin acts on the transcription of brain-derived neurotrophic factor (BDNF) and of many other neuronal genes and on BDNF transport.
  Wild-type huntingtin sequesters Repressor element 1 (RE1)-silencing transcription factor (REST, also known as neuronal restrictive silencing factor, NRSF) in the cytoplasm in such a way that the co-repressor complex does not form at the RE1 (also known as the neuron-restrictive silencer element, NRSE) sites and the BDNF gene is transcribed.
  The asterisk (...)

• epsilon-sarcoglycan
  7 October 2003

  Pathology
  mutations in myoclonus-dystonia anomalies of maternal imprinting (#12444570#)

• PTGER4
  31 May 2007

  EP4R, EP4

• ANGPT2
  21 March 2007

  angiopoietin-2

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