Fibrillin-1, a calcium binding protein of extracellular matrix.
Fibrillin-1 is a large extracellular matrix glycoprotein which assembles to form 10-12 nm microfibrils in extracellular matrix. Mutations in the human fibrillin-1 gene (FBN-1) cause the connective tissue disease Marfan syndrome and related disorders, which are characterised by defects in the skeletal, cardiovascular and ocular systems of the body. Fibrillin-1 has a striking modular organisation which is dominated by multiple tandem repeats of the calcium binding epidermal growth factor-like (cbEGF) domain. This review focuses on recent studies which have investigated the structural and functional role of calcium binding to cbEGF domains in fibrillin-1 and 10-12 nm microfibrils.
Handford
P A
PA
Division of Molecular and Cellular Biochemistry, Department of Biochemistry, University of Oxford, South Parks Road, OX1 3QU, Oxford, UK. penny@bioch.ox.ac.uk
D000818:Animals; D002118:Calcium / Q000378:metabolism; D002122:Calcium Chloride / Q000737:chemistry; D002135:Calcium-Binding Proteins / Q000737:chemistry / Q000378:metabolism*; D004533:Egtazic Acid; D004815:Epidermal Growth Factor / Q000737:chemistry / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000378:metabolism*; D000071838:Fibrillin-1; D000071837:Fibrillins; D005347:Fibroblasts; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D020894:Microfibrils / Q000737:chemistry / Q000378:metabolism*; D008840:Microfilament Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D020080:Tandem Repeat Sequences; D054392:Adipokines
D002118:Calcium; D002122:Calcium Chloride; D002135:Calcium-Binding Proteins; D004533:Egtazic Acid; D004815:Epidermal Growth Factor; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines