Ontology highlight
ABSTRACT:
SUBMITTER: Eberhardt HU
PROVIDER: S-EPMC3832495 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Eberhardt Hannes U HU Buhlmann Denise D Hortschansky Peter P Chen Qian Q Böhm Sascha S Kemper Markus J MJ Wallich Reinhard R Hartmann Andrea A Hallström Teresia T Zipfel Peter F PF Skerka Christine C
PloS one 20131118 11
Mutations and deletions within the human CFHR gene cluster on chromosome 1 are associated with diseases, such as dense deposit disease, CFHR nephropathy or age-related macular degeneration. Resulting mutant CFHR proteins can affect complement regulation. Here we identify human CFHR2 as a novel alternative pathway complement regulator that inhibits the C3 alternative pathway convertase and terminal pathway assembly. CFHR2 is composed of four short consensus repeat domains (SCRs). Two CFHR2 molecu ...[more]