🧬 基因注释：KCTD1
📝 官方信息
官方名称：potassium channel tetramerization domain containing 1
功能摘要：This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.444 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- 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
- QKI 综合评分: 0.350 · 证据 1 条
- ELAVL3 综合评分: 0.314 · 证据 1 条
- HNRNPL 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
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CSTF2 综合评分: 0.248 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- CELF2 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录