🧬 基因注释：PPHLN1
📝 官方信息
官方名称：periphilin 1
功能摘要：The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.460 · 证据 2 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- HNRNPL 综合评分: 0.424 · 证据 2 条
- QKI 综合评分: 0.412 · 证据 1 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- Tardbp 综合评分: 0.356 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 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
- TIA1 综合评分: 0.312 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 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
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录