ITM2B Antibody – Mouse Monoclonal

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

ITM2B: Plays a regulatory role in the processing of the beta- amyloid A4 precursor protein (APP) and acts as an inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites. Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 1 (CAA-ITM2B1). A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. ABri amyloidogenic peptide variant is cleaved at the normal furin processing site to generate peptide that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. ABri peptide variant forms fibrila in vitro. Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 2 (CAA-ITM2B2); also known as heredopathia ophthalmo-oto-encephalica. A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness. ADan amyloidogenic peptide variant is cleaved at the normal furin processing site to generate peptide that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. Belongs to the ITM2 family.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q14.3

Cellular Component: Golgi apparatus; extracellular space; intracellular membrane-bound organelle; membrane; plasma membrane; extracellular region; endosome membrane

Molecular Function: protein binding; beta-amyloid binding; ATP binding

Biological Process: nervous system development; negative regulation of amyloid precursor protein biosynthetic process

Disease: Cerebral Amyloid Angiopathy, Itm2b-related, 2; Cerebral Amyloid Angiopathy, Itm2b-related, 1; Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities