Mutated in human diseases

Articles

• PMS2
  14 May 2004

  PSML2, HNPCC4

• BRAF
  28 June 2004

  WKP
  Definition: BRAF is a human gene that makes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.
  The B-Raf protein is involved in sending signals inside cells which are involved in directing cell growth.
  Certain other inherited BRAF mutations cause birth defects.
  Drugs that treat cancers driven by BRAF mutations have been (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• 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 (...)

• DNAI1
  24 July 2007

  The DNAI1 gene encodes a 699-amino acid protein. Northern blot analysis detected a specific and abundant DNAI1 transcript of approximately 2.5 kb in adult trachea and testis and an additional weakly expressed DNAI1 transcript of approximately 4 kb in trachea.
  Pathology
  germline mutations in heterotaxia immotile cilia syndrome type 1 (IVS1DS) (MIM.242650) Kartagener syndrome (MIM.244400)
  References
  Guichard, C.; Harricane, M.-C.; Lafitte, J.-J.; Godard, P.; Zaegel, M.; Tack, V.; (...)

• GLIS2
  16 July 2007

  Glis2 is a transcription factor mutated in NPHP. Its product has an essential role for the maintenance of renal tissue architecture through prevention of apoptosis and fibrosis.
  Members of the Kruppel-like zinc finger protein family, such as GLIS2, function as activators and/or repressors of gene transcription.
  Pathology
  germline mutations in nephronophthisis (NPHP),
  nephronophthisis (NPHP) is an autosomal recessive kidney disease. It is the most frequent genetic cause of end-stage (...)

• ABCG8
  17 July 2007

  ABCG5 and ABCG8 are ATP-binding cassette (ABC) half-transporters that must heterodimerize to move to the apical surface of cells.
  Pathology
  Mutations in ABCG5 or ABCG8 cause sitosterolemia, an autosomal recessive disease characterized by sterol accumulation and premature atherosclerosis. The majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.
  See also
  N-linked glycans
  G5/G8 heterodimer
  protein (...)

• ABCG5
  17 July 2007

  ABCG5 and ABCG8 are ATP-binding cassette (ABC) half-transporters that must heterodimerize to move to the apical surface of cells.
  Pathology
  Mutations in ABCG5 or ABCG8 cause sitosterolemia, an autosomal recessive disease characterized by sterol accumulation and premature atherosclerosis. The majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.
  See also
  N-linked glycans
  G5/G8 heterodimer
  protein (...)

• LPIN2
  9 May 2008

  Pathology
  germline mutations in the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) (MIM.609628)
  References
  Ferguson, P. J.; Chen, S.; Tayeh, M. K.; Ochoa, L.; Leal, S. M.; Pelet, A.; Munnich, A.; Lyonnet, S.; Majeed, H. A.; El-Shanti, H. : Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J. Med. Genet. (...)

• CRLF1
  6 October 2003

  cytokine receptor-like factor 1

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