Protein

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• 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, (...)

• ETV6
  3 June 2004

  TEL (translocation ets leukemia)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• CD10
  28 June 2004

  MME, calla, membrane metalloendopeptidase, neprilysin; Common Acute Lymphoblastic Leukemia Antigen (CALLA), neutral endopeptidase 24.11, neprilysin, enkephalinase WKP PathologyOutlines HGNC PO
  See also: MME
  Definition: Cell membrane metallopeptidase expressed by early B, pro-B and pre-B lymphocytes, and by lymph node germinal centers.
  CD10 is widely distributed in normal tissue, including brush border of small bowel mucosa.
  CD10 is also expressed in neoplasms (epithelial cells and (...)

• CDKN1A
  29 November 2003

  p21, WAF1: CDKN1
  CDK-INTERACTING PROTEIN 1; CIP1
  WILDTYPE p53-ACTIVATED FRAGMENT 1; WAF1
  p21

• PLK1
  6 November 2010

  WKP
  Definition: Serine/threonine-protein kinase PLK1, also known as polo-like kinase 1 (PLK-1) or serine/threonine-protein kinase 13 (STPK13), is an enzyme that in humans is encoded by the PLK1 (polo-like kinase 1) gene.
  Polo-like kinase 1 (PLK1) is an essential protein in communicating cell-cycle progression and DNA damage. Polo-like kinase 1 (PLK1) is a multi-functional protein and its aberrant expression is a driver of cancerous transformation and progression.
  Upstream regulation of (...)

• FOXP3
  12 November 2003

  scurfin, JM2
  Definition: FoxP3 is a marker for immunosuppressive CD25+CD4+ regulatory T cells. These regulatory T cells are thought to play a role in inducing immune tolerance to antigens and may be selectively recruited by carcinomas.
  Forkhead box P3 (FOXP3) is the gene responsible for IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked).
  FOXP3 is located on the X chromosome and is of crucial importance for the generation of CD4+ CD25+ regulatory T cells (...)

• HOXA9
  17 September 2007

  WKP
  Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene.
  In vertebrates, the genes encoding the class of transcription factors called homeobox genes (HOXs ) are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development.
  This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, (...)

• ATR
  1 November 2007

  FRP1, FRAP-related protein 1

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