Integral Membrane Protein 2B (ITM2B)

ITM2B or BRI2 is a gene located on chromosom 13. The gene is connected to Familial Danish Disease (FDD) and Familial British Disease (FBD) causing amyloid and pre-filbrillar effects similar to those seen in Alzheimers Disease (AD).

The BRI cDNA encodes a predicted protein of 266 amino acids. The first ATG is located 150 basepairs downstream of an in-frame TAG stop codon and has a classic Kozak consensus sequence. Hydropathy analysis indicated the presence of a putative single transmembrane-spanning domain between amino acids 52 and 74, indicating that this highly insoluble molecule is a type II integral transmembrane protein with the C-terminal part being extracellular. A potential N-glycosylation site was identified at asparagine-170.