Aliases for ITM2B Gene
External Ids for ITM2B Gene
Previous GeneCards Identifiers for ITM2B Gene
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]
GeneCards Summary for ITM2B Gene
ITM2B (Integral Membrane Protein 2B) is a Protein Coding gene. Diseases associated with ITM2B include Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities and Cerebral Amyloid Angiopathy, Itm2b-Related, 1. Among its related pathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include amyloid-beta binding. An important paralog of this gene is ITM2C.
UniProtKB/Swiss-Prot Summary for ITM2B Gene
Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta 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.
Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42.
Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.