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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
Reference
Wiki: Meretoja syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03791 | P06396 | 2934 | GSN | Gelsolin | Homo sapiens |
