🧬 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
- CELF2 置信度: 2.0
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- FUBP3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- KHSRP 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF1 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录