🧬 基因注释:CTSD
📝 官方信息
官方名称:cathepsin D
功能摘要:This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- Srsf3 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
- Tardbp 综合评分: 0.310 · 证据 1 条
- UPF1 综合评分: 0.306 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- Mbnl2 综合评分: 0.298 · 证据 1 条
- PCBP1 综合评分: 0.298 · 证据 2 条
- GRSF1 综合评分: 0.274 · 证据 2 条
- U2af1 综合评分: 0.274 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录