🧬 基因注释：ITM2B
📝 官方信息
官方名称：integral membrane protein 2B
功能摘要：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].
🎯 作为靶基因的剪接因子
- Nova2 综合评分: 0.472 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- MBNL2 综合评分: 0.396 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- Mbnl2 综合评分: 0.360 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- NOVA1 综合评分: 0.324 · 证据 2 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- U2af1 综合评分: 0.294 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录