Mutated in tumors

Articles

• MSH6
  29 September 2003

  mismatch repair gene WKP
  Definition : MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.
  Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the (...)

• MLH1
  29 September 2003

  mismatch repair gene
  MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
  Pathology
  Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
  MLH1 loss of expression (...)

• GNAS
  29 September 2003

  GNAS1, NESP55, NESP-55, neuroendocrine secretory protein-55

• VHL
  23 September 2003

  The protein encoded by the VHL gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity.
  This complex is involved in the ubiquitination and degradation of a hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen.
  RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript (...)

• PALB2
  23 February 2007

  Definition: PALB2 was identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies.
  PALB2 co-localizes with BRCA2 (MIM.600185) in nuclear foci, promotes its localization and stability in nuclear structures, and enables its recombinational repair and checkpoint functions. PALB2 is a nuclear binding partner of BRCA2.
  Pathology
  Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and (...)

• FLT3
  29 October 2003

  FMS-like tyrosine kinase 3

• MSR1
  6 October 2003

  macrophage scavenger receptor 1

• FBXW7
  31 January 2008

  cdc4, archipelago, F-Box and WD40 domain protein 7, hCDC4, homolog of drosophila Archipelago

• DDR2
  20 December 2012

  WKP
  Definition: Discoidin domain receptor family, member 2, also known as DDR2 or CD167b (cluster of differentiation 167b), is a human gene coding for a receptor tyrosine kinases (RTK).
  This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain.
  Alternative splicing in the 5’ UTR results in multiple transcript variants encoding the same protein.
  Pathology
  Mutations in the DDR2 kinase gene in pulmonary (...)

• BAX
  22 April 2008

  Bcl-2–associated X protein

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