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].
Baron, Baron, Baron: "The ITM2B (BRI2) gene is a target of BCL6 repression: Implications for lymphomas and neurodegenerative diseases." in: Biochimica et biophysica acta, Vol. 1852, Issue 5, pp. 742-8, (2015) (PubMed).
Majewski, Lee, Jeong, Yoon, Kram, Kim, Tuziak, Bondaruk, Lee, Park, Tang, Chung, Shen, Ahmed, Johnston, Grossman, Dinney, Zhou, Harris, Snyder, Filipek, Narod, Watson, Lynch, Gazdar, Bar-Eli, Wu et al.: "Understanding the development of human bladder cancer by using a whole-organ genomic mapping strategy. ..." in: Laboratory investigation; a journal of technical methods and pathology, Vol. 88, Issue 7, pp. 694-721, (2008) (PubMed).
Aliases for ITM2B 抗体
integral membrane protein 2B (ITM2B) 抗体 integral membrane protein 2B (Itm2b) 抗体 integral membrane protein 2Ba (itm2ba) 抗体 integral membrane protein 2B L homeolog (itm2b.L) 抗体 integral membrane protein 2B (itm2b) 抗体 integral membrane protein 2b (itm2b) 抗体 integral membrane protein 2Bb (itm2bb) 抗体 ABRI 抗体 AI256040 抗体 BRI 抗体 Bri 抗体 BRI2 抗体 Bri2 抗体 BRICD2B 抗体 Bricd2b 抗体 D14Sel6 抗体 E3-16 抗体 E25B 抗体 E25BMM 抗体 FBD 抗体 imBRI2 抗体 itm2b 抗体 ITM2B 抗体 itm2bl 抗体 MGC52745 抗体 MGC76131 抗体 wu:fb94b03 抗体 wu:fc05f02 抗体 zgc:55770 抗体 zgc:64142 抗体 zgc:85688 抗体