Mutated in human diseases

Articles

• CDH1
  20 December 2007

  E-cadherin, cadherin-1, uvomorulin, epithelial cadherin WP HGNC PO
  Definition: Tumor suppressor gene CDH1 is at 16q22.1 Calcium-dependent transmembrane epithelial protein that promotes intercellular adhesion.
  Cadherin-1 (cadherin-E) is a specific calcium ion-dependent cell adhesion molecule. E-cadherin is simultaneously a major cell-adhesion molecule, a tumour suppressor protein, a determinant of cell polarity and a partner to the potent catenin signalling molecules.
  Its loss is (...)

• PITX2
  13 May 2005

  Pathology
  germline mutations in Rieger syndrome (MIM.180500) iridogoniodysgenesis syndrome type 2 (MIM.137600) Peters anomaly (MIM.604229) umbilical anomalies cardiac anomalies ring dermoid of the cornea
  References
  Mutation in PITX2 is associated with ring dermoid of the cornea. Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J. J Med Genet. 2004 Dec;41(12):e129. PMID: (...)

• 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, (...)

• 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 (...)

• 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 (...)

• 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 (...)

• SLC25A13
  9 March 2010

  SLC25A13 was found to encode a 675-amino acid protein with a molecular mass of 74 kD.
  The protein, termed citrin, is bipartite in structure, containing a mitochondrial carrier motif and 4 EF-hand domains. Northern blot analysis detected ubiquitous expression of a 3.4-kb transcript, with highest expression in liver.
  Pathology
  germline mutation in citrin deficiency adult-onset type II citrullinemia (MIM.603471)
  Adult-onset type II citrullinemia is caused by mutation in the SLC25A13 gene (...)

• TYMP
  28 May 2010

  TP; ECGF1; MNGIE; PDECGF; hPD-ECGF; TYMP

• NR5A1
  20 April 2010

  FTZ1, SF-1, ELP, AD4BP, SF1
  Definiton: Steroidogenic factor-1 (SF-1/Ad4-binding protein; NR5A1) is an essential regulator of tissue-specific gene expression in steroidogenic cells and of adrenogonadal development.
  SF-1 binds as a monomer to nuclear receptor half sites on DNA. Its transcriptional activity can be regulated by putative phospholipid ligands that bind inside its hydrophobic pocket, and by post-translational modifications, namely phosphorylation by different kinases at Ser203 (...)

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