Protein

Articles

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• 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, (...)

• ACE2
  15 April 2005

  angiotensin I converting enzyme 2

• AKT1
  24 November 2004

  Proteine kinase B, PKB, PKB-alpha, Proteine kinase B-alpha

• AIRE
  5 October 2004

  Autoimmune regulator (AIRE)

• GPC5
  21 September 2004

  glypican-5, GLYPICAN 5, GPC5

• FEV
  26 October 2004

  FEV belongs to a family of ETS transcription factors defined by the presence of a highly conserved 85-amino acid ETS domain. The ETS domain mediates specific binding to purine-rich DNA sequences characterized by an invariant GGA/TA core element.
  Pathology
  FEV rearrangemets in Ewing sarcoma EWS/FEV fusion gene in Ewing sarcoma (#9121764#) FUS/FEV fusion gene in Ewing sarcoma by t(2;16)(q35;p11) (#17620387#)
  References
  Ng TL, O’Sullivan MJ, Pallen CJ, Hayes M, Clarkson PW, Winstanley M, (...)

• LRP7
  18 October 2004

  LRP7 is a member of the low density lipoprotein receptor (LDLR) family. Members of the low density lipoprotein receptor (LDLR) family are cell surface proteins that bind and internalize ligands in the process of receptor-mediated endocytosis.
  Pathology
  germline mutations in the osteoporosis-pseudoglioma syndrome (MIM.259770)
  germline mutation in family with high bone mass (MIM.601884)
  germline mutation in autosomal dominant osteopetrosis type I (MIM.607634)
  germline mutation in (...)

• DTNBP1
  18 October 2004

  dysbindin, dystrobrevin-binding protein 1

• KCNE2
  14 October 2004

  KCNE2 code for the beta subunit of the KCNQ1-KCNE2 channel responsible for a background potassium current.
  Pathology
  germline gain-of-function mutation of KCNE2 in atrial fibrillation (#15368194#)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1590