The annexinopathies: a new category of diseases

Biochim Biophys Acta. 2000 Dec 20;1498(2-3):169-73. doi: 10.1016/s0167-4889(00)00093-8.

Abstract

The annexins are a family of highly homologous phospholipid binding proteins, which share a four-domain structure, with one member of the family - annexin VI - having a duplication consisting of eight domains. Thus far, ten annexins have been described in mammals. Although the biological functions of the annexins have not been definitively established, two human diseases involving annexin abnormalities ('annexinopathies') have been identified as of the time of writing. Overexpression of annexin II occurs in the leukocytes of a subset of patients having a hemorrhagic form of acute promyelocytic leukemia. Underexpression of annexin V occurs on placental trophoblasts in the antiphospholipid syndrome and in preeclampsia. Also, an animal model has been described in which annexin VII is underexpressed and is associated with disease, but the relevance of this animal model to human disease is not yet understood. Future research is likely to elucidate additional 'annexinopathies'.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Annexin A2 / biosynthesis*
  • Annexin A2 / genetics
  • Annexin A5 / deficiency*
  • Annexin A5 / genetics
  • Annexin A7 / deficiency
  • Annexin A7 / genetics
  • Antiphospholipid Syndrome / genetics
  • Calcium / metabolism
  • Calcium Channels / deficiency
  • Disease Models, Animal
  • Female
  • Fibrinolysis
  • Humans
  • Inositol 1,4,5-Trisphosphate Receptors
  • Insulin / metabolism
  • Leukemia, Promyelocytic, Acute / genetics
  • Pre-Eclampsia / genetics
  • Pregnancy
  • Receptors, Cytoplasmic and Nuclear / deficiency

Substances

  • Annexin A2
  • Annexin A5
  • Annexin A7
  • Calcium Channels
  • ITPR1 protein, human
  • Inositol 1,4,5-Trisphosphate Receptors
  • Insulin
  • Receptors, Cytoplasmic and Nuclear
  • Calcium