🧬 基因注释：PDIA6
📝 官方信息
官方名称：protein disulfide isomerase family A member 6
功能摘要：This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.496 · 证据 1 条
- fus 综合评分: 0.496 · 证据 1 条
- RBFOX2 综合评分: 0.486 · 证据 2 条
- Tardbp 综合评分: 0.477 · 证据 1 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- HNRNPA1 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
- QKI 综合评分: 0.350 · 证据 1 条
- TIA1 综合评分: 0.348 · 证据 1 条
- UPF1 综合评分: 0.322 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM10 综合评分: 0.312 · 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
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 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