🧬 基因注释：PSEN2

官方名称：presenilin 2

功能摘要：Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008].

• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• Tardbp 综合评分: 0.212 · 证据 1 条
• MATR3 综合评分: 0.200 · 证据 1 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• Rbmx 综合评分: 0.162 · 证据 1 条
• YBX1 综合评分: 0.162 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• CSTF2 综合评分: 0.150 · 证据 2 条
• MSI1 综合评分: 0.150 · 证据 1 条
• Srsf1 综合评分: 0.150 · 证据 1 条
• Srsf3 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF1 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条

该基因暂无关联疾病记录