🧬 基因注释：BEST1
官方名称：bestrophin 1
功能摘要：This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008].
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2T 置信度: 2.0
- EIF4A3 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPM 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM22 置信度: 2.0
- HNRNPUL1 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF8 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbpms 置信度: 1.0
- SAFB2 置信度: 1.0
- Srsf1 置信度: 1.0
- TIA1 置信度: 1.0
- Tardbp 置信度: 1.0
- Tra2a 置信度: 1.0
该基因暂无关联疾病记录