🧬 基因注释：SPG21
📝 官方信息
官方名称：SPG21 abhydrolase domain containing, maspardin
功能摘要：The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014].
🎯 作为靶基因的剪接因子
- PTBP1 综合评分: 0.506 · 证据 2 条
- FUS 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- ELAVL3 综合评分: 0.358 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.324 · 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
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- U2af1 综合评分: 0.274 · 证据 1 条
- UPF1 综合评分: 0.260 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录