🧬 基因注释:ABCC6
📝 官方信息
官方名称:ATP binding cassette subfamily C member 6
功能摘要:The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- NOVA1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM10 置信度: 2.0
- RBM15 置信度: 2.0
- AQR 置信度: 1.0
- MATR3 置信度: 1.0
- Nova2 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- SF3A3 置信度: 1.0
- SMNDC1 置信度: 1.0
- SRSF9 置信度: 1.0
- Srsf1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录