Protein

Articles

• PAX6
  25 September 2003

  Member of the PAXs family of proteins
  PAX6 is a member of the paired box gene family (PAXs). It encodes a transcriptional regulator involved in oculogenesis and other developmental processes.
  Pathology
  PAX6 deletion
  aniridia (absence of iris)
  WAGR syndrome
  PAX6 germline mutations
  type 2 aniridia
  bilateral cataracts
  congenital cataracts with late-onset corneal dystropohy
  foveal hypolasia (macular hypoplasia)
  autosomal dominant keratitis (MIM.148190)
  corneal stem cell (...)

• POT1
  26 January 2005

  The POT1 gene encodes a protein conserved across widely diverged eukaryotes that binds the G-rich strand of its own telomeric repeat sequence, consistent with a direct role in protecting chromosome ends.
  Function
  The human telomere binding protein hPot1 binds to the most distal single-stranded extension of telomeric DNA in vitro, and probably in vivo, as well as associating with the double-stranded telomeric DNA binding proteins TERF1 and TERF2 through the bridging proteins PTOP (also (...)

• 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, (...)

• TNXB
  22 September 2003

  Tenascin X

• EPHA2
  2 April 2005

  EphA2

• CHFR
  3 April 2005

  A number of human cancers are sensitive to mitotic stress, implying checkpoint defects. Many proteins that contain forkhead-associated (FHA) domains are cell cycle checkpoints.
  Animal models
  CHFR null mice (#15793587#)
  Pathology
  Expression of the mitotic checkpoint protein Chfr is lost in 20-50% of primary tumors and tumor cell lines.

• PCSK9
  3 April 2005

  PCSK9 is encoding a putative proprotein convertase.
  Pathology
  mutations in autosomal dominant familial hypercholesterolaemia (HCHOLA3) (MIM.603776)
  variants in plasma levels of low density lipoprotein (LDL) cholesterol
  References
  Kotowski IK, Pertsemlidis A, Luke A, Cooper RS, Vega GL, Cohen JC, Hobbs HH. A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol. Am J Hum Genet. 2006 Mar;78(3):410-22. PMID: (...)

• CTSD
  2 April 2005

  cathepsin-D

• ATBF1
  3 April 2005

  alpha-fetoprotein enhancer binding protein

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