Mutated in human diseases

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• HOXA1
  6 October 2005

  This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.
  Pathology
  germline mutations in Bosley-Salih-Alorainy syndrome (BSAS) (MIM.601536) Athabaskan brainstem dysgenesis syndrome (MIM.601536)
  homozygous truncating mutations in HOXA1 result in phenotype including horizontal gaze abnormalities, deafness, (...)

• TP53
  30 September 2003

  P53, p53
  Definition: p53 is a nuclear phospho-protein which, in response to DNA damage, slows progression through the cell cycle and initiates apoptosis if damage is severe. The tumor suppressor gene TP53 is altered in the majority of cancers.
  p53 is required for the G1/S checkpoint and is a main component of the G2/M checkpoint. The p53 protein causes cell-cycle arrest and apoptosis. It acts mainly through p21 to cause cell-cycle arrest.
  It causes apoptosis by inducing the transcription (...)

• TTR
  5 February 2008

  transthyretin

• FMR1
  2 October 2003

  Definition: The fragile X mental retardation 1 (FMR1) gene is primarily associated with neuro/psychiatric risks. The FMR1 gene is a regulator of ovarian recruitment and ovarian reserve. (#20955631#) FMR1 exerts controlling functions on follicle recruitment and ovarian reserve (OR). This function appears distinct from the gene’s neuro/psychiatric effects, associated with a different, and specific, triple nucleotide (CGG) repeat range and characterized by specific genotypes.
  Ovarian function (...)

• CD36
  6 October 2003

  GP4, GP3B, GP IIIb

• MAPT
  17 October 2003

  tau protein, TAU
  Definition: Tau or MAPT is a microtubule-associated protein (MAPs) expressed in neurons that stabilizes microtubules in the axon. Six isoforms, containing either three or four microtubule-binding domains (3R or 4R tau), are expressed in the adult human brain.
  Images
  globose tangles in progressive supranuclear palsy (PSP) case (substantia nigra ). Immunohistochemistry by tau protein antibody. https://twitter.com/Meggenwalsh/status/766989000150253568
  The (...)

• CHEK2
  26 September 2003

  CHK2 is an important multifunctional player in the DNA-damage response signalling pathway. Parallel studies of the human CHEK2 gene have also highlighted its role as a candidate multiorgan tumour susceptibility gene rather than a highly penetrant predisposition gene for Li-Fraumeni syndrome.
  The cell cycle checkpoint kinase CHEK2 is a protein kinase activated in response to DNA damage, is involved in cell cycle arrest. CHEK2 is the upstream regulator of p53 in the DNA-damage-signaling (...)

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