Mutated in human diseases

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• TNFRSF6
  27 January 2005

  CD95, surface abtigen APO1, APT1, FAS

• GATA3
  24 May 2005

  GATA-3
  PO
  Definition: GATA3 is a zinc-finger transcription factor (ZFNs), which is expressed in various normal and neoplastic tissues.
  GATA3 is a transcription factor important in the differentiation of breast epithelia, urothelia, and subsets of T-lymphocytes.
  It has been suggested useful in the evaluation of mammary or urothelial origin or metastatic carcinomas. GATA3 is a useful marker in characterization not only mammary carcinomas and urothelial carcinoma but also for renal tumors (...)

• 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, (...)

• MYCN
  18 April 2005

  NMYC, N-MYC

• TARDBP
  20 April 2008

  TAR-43

• DNAI1
  24 July 2007

  The DNAI1 gene encodes a 699-amino acid protein. Northern blot analysis detected a specific and abundant DNAI1 transcript of approximately 2.5 kb in adult trachea and testis and an additional weakly expressed DNAI1 transcript of approximately 4 kb in trachea.
  Pathology
  germline mutations in heterotaxia immotile cilia syndrome type 1 (IVS1DS) (MIM.242650) Kartagener syndrome (MIM.244400)
  References
  Guichard, C.; Harricane, M.-C.; Lafitte, J.-J.; Godard, P.; Zaegel, M.; Tack, V.; (...)

• CYP17A1
  25 May 2009

  CYP17A1 (also known as 17α-hydroxylase/17,20 lyase/17,20 desmolase) is a cytochrome P450 enzyme.
  CYP17A1 acts upon pregnenolone and progesterone to add a hydroxyl (-OH) group at carbon 17 of the steroid D ring (the hydroxylase activity), or acts upon 17-hydroxyprogesterone and 17-hydroxypregnenolone to split the side chain off the steroid nucleus (the lyase activity).
  This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases (...)

• TBX20
  30 October 2007

  The T-box family transcription factor gene TBX20 acts in a conserved regulatory network, guiding heart formation and patterning in diverse species. TBX20 interacts physically, functionally, and genetically with other cardiac transcription factors, including NKX2-5, GATA4, and TBX5, mutations of which cause congenital heart disease (CHD).
  Animal modes
  Mouse Tbx20 is expressed in cardiac progenitor cells, differentiating cardiomyocytes, and developing valvular tissue, and its deletion or (...)

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