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

• 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 (...)

• FGFR1
  18 January 2005

  Pathology
  germ-line mutations of FGFR1
  in Pfeiffer syndrome (MIM.101600)
  in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
  in osteoglophonic dysplasia
  isolated trigonocephaly (MIM.190440)
  isolated trigonocephaly (MIM.190440)
  fusion proteins in cellular proliferations
  BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
  CEP110-FGFR1 by t(8;9)(p12;q33) in (...)

• PARK2
  16 December 2003

  parkin, PRKN

• CHEK2
  26 September 2003

  CHK2 is an important multifunctional player in the DNA-damage response signalling pathway. Parallel studies of the human CHEK2 gene have also highlighted its role as a candidate multiorgan tumour susceptibility gene rather than a highly penetrant predisposition gene for Li-Fraumeni syndrome.
  The cell cycle checkpoint kinase CHEK2 is a protein kinase activated in response to DNA damage, is involved in cell cycle arrest. CHEK2 is the upstream regulator of p53 in the DNA-damage-signaling (...)

• APC
  20 November 2003

  The APC gene encodes a ubiquitously expressed 300 kDa protein that is frequently mutated in patients suffering from FAP and GS.
  APC is associated with structural components of intracellular junctions, including conductin, and it competes with E-cadherin for binding to specific internal regions of both â- and ã-catenin.
  Like APC, APC2 contains SAMP domains, which are required for conductin binding. Both APC and APC2 regulate the formation of active â-catenin-Tcf complexes.
  Germ line (...)

• RAG1
  9 May 2008

  RAG1 activates the V(D)J recombination.
  Pathology
  germline mutations in B cell-negative SCID (MIM.601457) Omenn syndrome (MIM.603554) alpha/beta lymphopenia with gamma/delta-cell expansion, severe CMV infection and autoimmunity (#16276422#) systemic granulomatosis (#18463379#)
  See also
  RAGs RAG2
  References
  Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, (...)

• CDKN1C
  20 September 2004

  p57kip2, KIP2, p57
  Definition: The p57(KIP2) protein (P57KIP2) is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation.
  The p57KIP2 gene is paternally imprinted and maternally expressed, and the presence of its protein product serves as a surrogate marker for the nuclear maternal genome.
  p57kip2 is a cyclin dependent kinase inhibitor expressed as a maternal allele. It is expressed in partial moles (Partial moles: fetal (...)

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