Protein

Articles

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• GDI1
  3 June 2006

  GDP dissociation inhibitors (GDIs) are proteins that regulate the GDP-GTP exchange reaction of members of the rab family (RABS), small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles.
  The rab proteins (RABs) undergo activation upon GTP binding, and GTP hydrolysis to GDP inactivates the protein. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound RABs.
  X-linked (...)

• DUX4
  30 January 2008

  Molecular biology
  CIC-DUX4 gen fusion in Ewing-like sarcoma
  Ewing-like sarcomas with t(4;19)(q35;q13)
  Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.
  fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (#16717057#)
  CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a (...)

• WIF1
  3 September 2007

  Function
  WNTs proteins are extracellular signaling molecules involved in the control of embryonic development. There are at least 2 families of secreted inhibitors of WNT signaling:
  the secreted frizzled-related protein family (as SFRP1; MIM.604156), all of which have an N-terminal cysteine-rich domain and are transmembrane receptors;
  and the Dickkopf (German for ’big head,’ or ’stubborn’) family (as DKK1; MIM. 605189).
  Pathology
  WIF1/HMGA2 fusion in pleomorphic adenomas (#17171686#) (...)

• 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, (...)

• SLC40A1
  5 August 2008

  ferropontin

• POL3A
  14 November 2011

  Pathology
  Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes.
  POLR3B codes for the second largest subunit of Pol III.
  Mutations in genes coding for Pol III subunits (POL3s) are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic (...)

• PCNA
  16 October 2006

  proliferating cell nuclear antigen

• ROBO1
  16 September 2007

  ROBO1 (or DUTT1 (Deleted in U Twenty Twenty), FLJ21882, SAX3

• TRIO
  11 September 2007

  Structure
  The TRIO protein contains 3 functional domains: a serine/threonine kinase domain and 2 guanine nucleotide exchange factor (GEF) domains for the family of Rho-like GTPases, specific for Rac1 (MIM.602048) and RhoA (MIM.165390). These functional domains suggest that this enzyme may play a key role in several signaling pathways that control cell proliferation.
  Pathology
  Copy number gains and high-level amplifications of the short arm of chromosome 5 are frequently observed in soft (...)

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