Mutated in human diseases

Articles

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• BRAF
  28 June 2004

  WKP
  Definition: BRAF is a human gene that makes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B, while the protein is more formally known as serine/threonine-protein kinase B-Raf.
  The B-Raf protein is involved in sending signals inside cells which are involved in directing cell growth.
  Certain other inherited BRAF mutations cause birth defects.
  Drugs that treat cancers driven by BRAF mutations have been (...)

• MYO5B
  2 July 2010

  Myosins are molecular motors that, upon interaction with actin filaments, utilize energy from ATP hydrolysis to generate mechanical force, as MYO1A (MIM.601478).
  Pathology
  germline mutation in early-onset microvillus inclusion disease (MVID) (MIM.251850)
  Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. (#20186687#)
  Navajo microvillous inclusion disease is due to a mutation in MYO5B. (#19006234#)
  MYO5B (...)

• Aβ
  14 January 2008

  A beta, beta-amyloid peptide

• SLC2A1
  9 June 2003

  GLUT1

• LIG4
  16 March 2007

  ATP-dependent DNA ligase 4

• KCNQ3
  23 April 2008

  Pathology
  benign neonatal epilepsy 2 (EBN2) (MIM.121201) is caused by mutation in the KCNQ3 gene (MIM.602232) on chromosome 8q24.

• 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 (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• RMRP
  9 February 2005

  RNA component of mitochondrial RNA-processing endoribonuclease (RMRP)

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