Mutated in human diseases

Articles

• huntingtin
  16 July 2003

  Huntingtin acts on the transcription of brain-derived neurotrophic factor (BDNF) and of many other neuronal genes and on BDNF transport.
  Wild-type huntingtin sequesters Repressor element 1 (RE1)-silencing transcription factor (REST, also known as neuronal restrictive silencing factor, NRSF) in the cytoplasm in such a way that the co-repressor complex does not form at the RE1 (also known as the neuron-restrictive silencer element, NRSE) sites and the BDNF gene is transcribed.
  The asterisk (...)

• TBX20
  30 October 2007

  The T-box family transcription factor gene TBX20 acts in a conserved regulatory network, guiding heart formation and patterning in diverse species. TBX20 interacts physically, functionally, and genetically with other cardiac transcription factors, including NKX2-5, GATA4, and TBX5, mutations of which cause congenital heart disease (CHD).
  Animal modes
  Mouse Tbx20 is expressed in cardiac progenitor cells, differentiating cardiomyocytes, and developing valvular tissue, and its deletion or (...)

• ERCC1
  5 March 2006

  RAD10

• TFAP2A
  25 April 2008

  AP2-alpha

• PTPN22
  7 July 2004

  Autoimmune-associated lymphoid tyrosine phosphatase, hematopoietic-specific protein tyrosine phosphatase gene

• CACNA1S
  6 September 2005

  Pathology
  germline mutations in hypokalemic periodic paralysis (MIM.170400) malignant hyperthermia susceptibility locus MHS5 (MIM.601887) thyrotoxic periodic paralysis (MIM.188580)

• MARVELD2
  11 December 2007

  MARVD2, tricellulin, TRIC

• FOXP2
  25 September 2003

  Definition: FOXP2 is a member of the FOXPs protein family.
  Pathology
  germline mutations in FOXP2 cause developmental verbal dyspraxia (DVD).
  FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects human speech and language abilities. Locus: 7q31
  Differential parent-of-origin expression of FOXP2 in human speech development.
  specific language impairment (#12721956#, #15877281#)
  FOXP2 is the first gene to have been implicated in a developmental (...)

• ATP2A2
  1 November 2004

  SERCA2, ATP2B, sarcoplasmic reticulum Ca2+-ATPase2

• PABPN1
  11 June 2005

  Pathology
  germline mutations in oculopharyngeal muscular dystrophy (OPMD) (MIM.164300) polyalanine repeat expansion
  See also
  polyalanine repeat expansions

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 620