🧬 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].

• PTBP1 综合评分: 0.362 · 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
• PRPF8 综合评分: 0.324 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• RBM22 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• Srsf1 综合评分: 0.248 · 证据 1 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• Tardbp 综合评分: 0.212 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• HNRNPUL1 综合评分: 0.198 · 证据 1 条
• U2af2 综合评分: 0.198 · 证据 1 条
• CSTF2T 综合评分: 0.162 · 证据 2 条
• Rbpms 综合评分: 0.162 · 证据 1 条
• SAFB2 综合评分: 0.162 · 证据 1 条
• XRN2 综合评分: 0.162 · 证据 1 条
• CPSF7 综合评分: 0.150 · 证据 2 条

该基因暂无关联疾病记录