ITM2B/Bri2 (E6O3Y) Rabbit mAb #10644

Integral membrane protein 2b (ITM2B), also known as Bri2, is a type II membrane protein. ITM2B is expressed as a precursor immature form and is processed by furin proteases to produce the mature ITM2B/Bri2 protein and a soluble C-terminal fragment (1,2). The membrane-bound ITM2B/Bri2 protein can be further processed by ADAM10 and intramembrane proteases (1). Several studies have implicated the ITM2B gene with familial forms of dementia and neurodegenerative diseases, including Alzheimer’s disease (AD). Mutations in the human ITM2B gene are linked to several familial British and Danish dementia disorders (3,4). ITM2B gene mutations cause abnormal processing of the ITM2B/Bri2 protein, suggesting that the products of ITM2B/Bri2 protein cleavage might contribute directly to disease etiology (4). Interestingly, cleavage of disease-linked mutant ITM2B-encoded proteins generates peptides (ABri and ADan) that are more prone to deposit as amyloid fibrils, a pathological hallmark of many neurodegenerative diseases (2,4). Additionally, ITM2B/Bri2 interacts with Aβ-precursor protein (APP), a gene/protein linked to AD, and may alter APP processing and fibril formation (5-7). ITM2B/Bri2 is one of a family of proteins containing a BRICHOS domain, identified by their ability to inhibit Aβ fibril formation (8). The specific function of ITM2B/Bri2 is unclear, but it may contribute to normal synaptic function via an unknown mechanism (9).