ADan amyloid

Introduction

Derived from integral membrane protein 2B (ITM2B).

Pathology

• 10 nucleotide duplication in ITM2B gene between aa 265 & 266 just before stop codon results in a 277 aa residue protein (normal 266 aa), of which release of the 34 C-terminal amino acids generates amyloid
• this mutation is associated with familial Danish dementia
• deposits of ADan result in cerebral amyloid angiopathy

More general terms

• amyloid