🧬 基因注释：PSENEN

官方名称：presenilin enhancer, gamma-secretase subunit

功能摘要：Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].

• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.362 · 证据 1 条
• fus 综合评分: 0.362 · 证据 1 条
• PCBP2 综合评分: 0.360 · 证据 1 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• EWSR1 综合评分: 0.312 · 证据 2 条
• RBM10 综合评分: 0.312 · 证据 2 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• Srsf3 综合评分: 0.300 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• TFIP11 综合评分: 0.212 · 证据 1 条
• Rnps1 综合评分: 0.198 · 证据 1 条
• Rbmx 综合评分: 0.162 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条

该基因暂无关联疾病记录