Protein

Articles

• 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, (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• 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 (...)

• WASL
  31 December 2007

  WASP-like (WASL)

• AMLS1
  21 January 2006

  Alstrom syndrome 1 gene (ALMS1), encodes a novel protein that contains coiled-coil domains, and a putative nuclear localization signal, as well as serine-rich and histidine-rich regions.
  ALMS1 forms a part of the centrosome which together with the data on BBS proteins, confirms the role of centrosomal proteins in the forms of CDK that are associated with diabetes, obesity and retinitis pigmentosa.
  Pathology
  germline mutation in ALMS1 in Alstrom (...)

• HMGA2
  27 October 2004

  HMGI-C, HMGI-C

• GSTM4
  5 June 2007

  Glutathione S-transferases (GSTs) are a complex family of multifunctional enzymes thought to play a significant role in cellular detoxification. Cytosolic GSTs have been subdivided into 4 classes: alpha, mu, pi, and theta.
  Four isoenzymes of the mu class (GSTMs) have been identified: GSTM1 (MIM.138350), GSTM2 (MIM.138380), GSTM3 (MIM.138390), and GSTM4 (MIM.138333).
  The human Mu class Glutathione S-Transferases (GSTMs) is a family of genes encoding phase II detoxifying enzymes thus (...)

• SLITRK1
  6 February 2006

  SLITRK1 is an integral membrane protein with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLITs proteins, like SLIT2.
  SLITRK1 was associated with abnormal axonal-dendritic development in embryonic mouse cells.
  Pathology
  SLITRK1 mutations in Tourette syndrome (MIM.137580) Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by impairing motor-vocal tics. SLITRK1 is not a major causal gene for GTS.
  See also SLITRKs SLITRK2 SLITRK3 (...)

• FIP1L1
  9 February 2006

  Pathology
  PDGFRA/FIP1L1 gene fusion in
  chronic eosinophilic leukemia (idiopathic hypereosinophilic syndrome) (MIM.607685)
  eosinophilia-associated acute myeloid leukemia (#17377585#)
  lymphoblastic T-cell lymphoma (#17377585#)
  References
  Vigna E, Lucia E, Gentile M, Mazzone C, Bisconte MG, Gentile C, Armentano A, Ottaviani E, Rondoni M, Martinelli G, Morabito F. PDGFRalpha/FIP1L1-positive chronic eosinophilic leukemia presenting with retro-orbital localization: efficacy of imatinib (...)

• EZR
  4 May 2004

  ezrin, villin-2, cytovillin, VIL2
  Defintion: EZR (VIL2 or ezrin or cytovillin) is a microvillar cytoplasmic peripheral membrane protein that is expressed strongly in placental syncytiotrophoblasts and in certain human tumors.
  EZR (ezrin) is a component of the microvilli of intestinal epithelial cells that serves as a major cytoplasmic substrate for certain protein-tyrosine kinases.
  ERM proteins (Ezrin-Radixin-Moesin proteins)
  Ezrin (VIL2), radixin (RDX) (MIM.179410), and moesin (MSN) (...)

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