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Browse result for Meretoja syndrome

※ introduction

    Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin. First described in 1969 by the Finnish ophthalmologist Jouko Meretoja, FAF is uncommon with 400¨C600 cases described in Finland and 15 elsewhere.

Reference
Wiki: Meretoja syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03791P063962934
GSN
Gelsolin
Homo sapiens