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, (...)

• 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 (...)

• BRCA1
  29 September 2003

  Wikipedia
  Definition: BRCA1 is a tumor suppressor that functions in controlling cell growth and maintaining genomic stability. The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc-finger protein of unknown function.
  BRCA1 is a tumour suppressor that has important roles in the protection against genomic instability.
  Cells lacking BRCA1 are hypersensitive to many DNA-damaging agents such as ultraviolet light and ionizing radiation, and show defects in both S- and (...)

• TTF1
  26 June 2008

  NK2 homeobox 1, NKX2A, BCH, TITF1, thyroid transcription factor 1, TTF-1, TTF1; TTF1, thyroid transcription factor-1, TITF1; thyroid transcription factor-1 TTF-1NKX2-1 ; NKX2-1 WP PO
  Definition: Thyroid transcription factor-1 (TTF-1) is a 38-kd homeodomain containing DNA-binding protein originally identified in follicular cells of the thyroid and subsequently in pneumocytes. TTF-1 is one of the three most important transcription factors for thyroid gland organogenesis.
  Expression in (...)

• SMARCB1
  24 November 2003

  INI1, SNF5, INI1/SNF5

• FH
  31 May 2004

  Fumarate hydratase, fumarase

• 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 (...)

• ERCC1
  5 March 2006

  RAD10

• TFAP2A
  25 April 2008

  AP2-alpha

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