Protein

Articles

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• SMARCA4
  11 August 2004

  BRG1; "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"; SNF2L4
  Definition: The protein encoded by SMARCA4 is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila.
  Members of this family have helicase and ATPase (...)

• CDH1
  20 December 2007

  E-cadherin, cadherin-1, uvomorulin, epithelial cadherin WP HGNC PO
  Definition: Tumor suppressor gene CDH1 is at 16q22.1 Calcium-dependent transmembrane epithelial protein that promotes intercellular adhesion.
  Cadherin-1 (cadherin-E) is a specific calcium ion-dependent cell adhesion molecule. E-cadherin is simultaneously a major cell-adhesion molecule, a tumour suppressor protein, a determinant of cell polarity and a partner to the potent catenin signalling molecules.
  Its loss is (...)

• CFC1
  24 July 2007

  Genes of the EGFs-CFCs family encode extracellular proteins that play key roles in intercellular signaling pathways during vertebrate embryogenesis.
  Pathology
  germline mutations in autosomal visceral heterotaxy (sporadic left-right anomalies) (MIM.605376) sporadic double-outlet right ventricle (DORV) (MIM.217095) dextro-looped transposition of the great arteries (MIM.608808) associated with intact interventricular septum
  See also
  CRIPTO (TDGF1) (MIM.187395)
  nodal signalling
  axial (...)

• ATM
  28 October 2003

  ataxia-telangiectasia mutated

• KRAS
  14 April 2004

  Ki-ras, KRAS2

• CHD7
  2 November 2004

  chromodomain helicase DNA-binding protein-7

• CDK5RAP2
  3 April 2005

  Pathology
  germline mutations in primary autosomal recessive microcephaly type 3 (MIM.604804)
  CDK5RAP2/PDGFRA fusion gene by ins(9;4)(q33;q12q25) in chronic eosinophilic leukemia (#16845659#)
  References
  Walz C, Curtis C, Schnittger S, Schultheis B, Metzgeroth G, Schoch C, Lengfelder E, Erben P, Muller MC, Haferlach T, Hochhaus A, Hehlmann R, Cross NC, Reiter A. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA (...)

• CENPJ
  3 April 2005

  centromeric protein J

• BBS2
  24 March 2005

  References
  germline mutations in Bardet-Biedl syndrome (MIM.209900)

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