🧬 基因注释：SMARCAL1
📝 官方信息
官方名称：SNF2 related chromatin remodeling annealing helicase 1
功能摘要：The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- Tardbp 综合评分: 0.356 · 证据 1 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 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
- fus 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.296 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- PRPF4 综合评分: 0.212 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- CSTF2T 综合评分: 0.162 · 证据 2 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- Rbpms 综合评分: 0.162 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录