ABri amyloid
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Introduction
Derived from integral membrane protein 2B (ITM2B)
Pathology
- point mutation at stop codon results in a 277 aa residue ITM2B protein (normal 266 aa), of which release of the 34 C-terminal amino acids generates amyloid
- this mutation is associated with familial British dementia
- deposits of ABri result in cerebral amyloid angiopathy
- soluble form (sABri) found in plasma & in blood vessels & parenchyma of other organs (see familial British dementia)