Protein

Articles

• 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, (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• CALB2
  7 July 2004

  calbindin-2, calretinin, calretinine PO
  Definition: Calbindin-2 (CALB2, calretinin) is a calcium-binding protein belonging to the troponin C superfamily (MIM.191040), close to the S-100 proteins (S100s). Calcium binding protein structurally related to S-100 and inhibin.
  Calretinin is a calcium-binding protein expressed in different normal and neoplastic tissues.
  Images
  tubal adenomatoid tumor and STIC - calretinin IHC https://twitter.com/LadyJayDoc/status/1205682991755857922 (...)

• MALT1
  31 January 2005

  MLT, paracaspase

• DNAH11
  24 July 2007

  Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets.
  Pathology
  germline mutations in situs inversus viscerum primary ciliary dyskinesia (MIM.242650) Kartagener syndrome (MIM.244400)
  See also (...)

• ACVR2B
  24 July 2007

  Activins
  Activins are gonadal polypeptide hormones that are potent stimulators of FSH secretion and release in vitro.
  Activins are dimers of 2 beta subunits that share extensive sequence homology with transforming growth factor-beta (TGFB) (MIM.190180).
  There are 2 classes of activin receptors, type I and type II.
  Pathology
  germline mutations in left-right axis malformations (situs ambiguus) ventricular inversion (dextrocardia), but intact ventricular septum and normally related (...)

• ABCB4
  4 June 2003

  Canalicular phospholipid transporter ABCB4, MDR3

• BCOR
  1 January 2011

  BCL6 corepressor; FLJ20285, KIAA1575
  The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was described in translocation-negative ’Ewing-like’ sarcomas arising in bone and soft tissue.
  Pathology
  BCOR-CCNB3 gene fusion in Ewing-like sarcoma . (#22387997#)
  CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells.
  The intrachromosomal (...)

• SLC2A1
  9 June 2003

  GLUT1

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