ITM2B
Gene Information
- Official Symbol: ITM2B
- Official Name: integral membrane protein 2B
- Aliases and Previous Symbols: N/A
- Entrez ID: 9445
- UniProt: Q9Y287
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: 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. Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 11705
- Expression level (log2 read counts): 6.95