🧬 基因注释：SERPINB6
📝 官方信息
官方名称：serpin family B member 6
功能摘要：The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.448 · 证据 2 条
- FUS 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.398 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM15 综合评分: 0.312 · 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
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- U2af1 综合评分: 0.274 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Tardbp 综合评分: 0.248 · 证据 1 条
- U2af2 综合评分: 0.244 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录