基因名：
ITM2B
产品别名：
ABRI； BRI； BRI2； BRICD2B； E25B； E3-16； FBD； RDGCA； imBRI2； ITM2B； integral membrane protein 2B； integral membrane protein 2B； integral membrane protein 2B； ABri/ADan amyloid peptide； BRICHOS domain containing 2B； epididymis secretory sperm binding protein； immature BRI2； transmembrane protein BRI； 跨膜蛋白BRI；
背景信息：
Integral Membrane Protein 2B (ITM2B) is expressed in the Golgi and on the cell surface. ITM2B forms homodimer through disulfide-linked interaction with SPPL2A, SPPL2B and APP. ITM2B is expressed in brain and the other tissues. Defects in ITM2B cause cerebral amyloid angiopathy ITM2B-related type 1(CAA-ITM2B1) and amyloid angiopathy ITM2B-related type 2(CAA-ITM2B2). CAA-ITM2B1 is characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. CAA-ITM2B2 characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina.
