The annexinopathies: a new category of diseases.
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'.
Rand
J H
JH
Thrombosis and Hemostasis Section, Hematology Division, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA. jacob.rand@mssm.edu
D000818:Animals; D017306:Annexin A2 / Q000096:biosynthesis* / Q000235:genetics; D017304:Annexin A5 / Q000172:deficiency* / Q000235:genetics; D017310:Annexin A7 / Q000172:deficiency / Q000235:genetics; D016736:Antiphospholipid Syndrome / Q000235:genetics; D002118:Calcium / Q000378:metabolism; D015220:Calcium Channels / Q000172:deficiency; D004195:Disease Models, Animal; D005260:Female; D005342:Fibrinolysis; D006801:Humans; D053496:Inositol 1,4,5-Trisphosphate Receptors; D007328:Insulin / Q000378:metabolism; D015473:Leukemia, Promyelocytic, Acute / Q000235:genetics; D011225:Pre-Eclampsia / Q000235:genetics; D011247:Pregnancy; D018160:Receptors, Cytoplasmic and Nuclear / Q000172:deficiency
D017306:Annexin A2; D017304:Annexin A5; D017310:Annexin A7; D015220:Calcium Channels; C506926:ITPR1 protein, human; D053496:Inositol 1,4,5-Trisphosphate Receptors; D007328:Insulin; D018160:Receptors, Cytoplasmic and Nuclear; D002118:Calcium