Protein

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• NKX2E
  19 June 2005

  NKX2-5

• OLIG2
  20 May 2009

  PRKCBP2

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• PRF1
  11 November 2003

  perforin

• SIX3
  13 May 2005

  Pathology
  germline mutations of SIX3 in holoprosencephaly 2 (HPE2) (MIM.157170) microphtalmia iris coloboma
  See also
  SIXs

• CD34
  25 May 2005

  Definition: CD34 is a monomeric cell surface sialomucin with a molecular mass of approximately 110 kD that is selectively expressed on human hematopoietic progenitor cells.
  Function
  At least three endothelial cell ligands can bind L-selectin:
  glycan-bearing cell adhesion molecule-1 (GlyCAM-1), a secreted proteoglycan found on HEVs of lymph node
  mucosal addressin cell adhesion molecule-1 (MadCAM-1), expressed on endothelial cells in gut-associated lymphoid tissues
  CD34, a (...)

• SLC19A3
  25 June 2005

  Pathology
  germline mutations in biotin-responsive basal ganglia disease

• DJ1
  18 June 2005

  Definition: DJ-1 is a ubiquitous protein that was first described as an oncogene.
  Pathology
  germline mutations in autosomal recessive early-onset Parkinson disease (PARK7) (MIM.606324)
  See also
  8 mutated Parkinson disease genes known (2008) SNCA PARK2 UCHL1 PINK1 DJ1 LRRK2 ATP13A2 HTRA2
  References
  da Costa CA. DJ-1: a new comer in Parkinson’s disease pathology. Curr Mol Med. 2007 Nov;7(7):650-7. PMID: (...)

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