Protein

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, (...)

• DLL4
  3 July 2007

  The ligand for the Notch receptors, Delta-like ligand 4 (DLL4), is normally induced by VEGF and is a negative-feedback regulator that restrains vascular sprouting and branching. The Dll4-Notch signalling pathway has been shown to regulate angiogenesis during development.
  The Dll4 gene is located on chromosome 15q14 and encodes a 685 amino acid single-pass Type I transmembrane protein. Dll4 has been well conserved during evolution with the human and mouse protein sharing 87% sequence (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• LAMP-2
  22 April 2004

  Pathology
  mutations in the Danon disease (lysosomal glycogen storage disease with normal acid maltase)
  References
  Saftig P, Tanaka Y, Lullmann-Rauch R, von Figura K. Disease model: LAMP-2 enlightens Danon disease. Trends Mol Med. 2001 Jan;7(1):37-9. PMID: #11427988#

• JAK2
  8 November 2005

  Janus activated kinase 2

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• MPO
  23 November 2005

  myeloperoxidase

• TMPRSS2
  14 November 2005

  Prostate cancer
  TMPRSS2 gene fusions with ETS transcription factor family members ERG, ETV1, or ETV4 have been recently discovered as a common molecular event in prostate cancer.
  Although several studies have been done, the clinical utility of TMPRSS2 genetic alterations as biomarkers for prostate carcinoma remains indeterminate.
  No normal prostate samples show TMPRSS2 translocation or deletion.
  Sixty-two percent (62%) patients of prostate carcinomas demonstrate TMPRSS2 gene (...)

• BTK
  18 October 2005

  BTK codes for the Bruton tyrosine kinase (also known as BPK or ATK), a key regulator in B-cell development.
  Pathology
  germline mutations in X-linked agammaglobulinemia (Bruton agammaglobulinemia)

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