Mutated in human diseases

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• 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, (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• PARK2
  16 December 2003

  parkin, PRKN

• SMARCA4
  11 August 2004

  BRG1; "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"; SNF2L4
  Definition: The protein encoded by SMARCA4 is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila.
  Members of this family have helicase and ATPase (...)

• BMPR1A
  18 November 2003

  ALK3, ACVRLK3

• NF2
  25 November 2003

  merlin

• ALS2
  14 November 2003

  alsin

• FBN1
  17 November 2003

  fibrillin-1

• SNCA
  20 November 2003

  alpha-synuclein

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