[HTML][HTML] His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease …

SJ Clark, VA Higman, B Mulloy, SJ Perkins… - Journal of biological …, 2006 - ASBMB
A polymorphism in complement factor H has recently been associated with age-related
macular degeneration (AMD), the leading cause of blindness in the elderly. A histidine
rather than a tyrosine at residue position 384 in the mature protein increases the risk of
AMD. Here, using a recombinant construct, we show that amino acid 384 is adjacent to a
heparin-binding site in CCP7 of factor H and demonstrate that the allotypic variants
differentially recognize heparin. This functional alteration may affect binding of factor H to …