🧬 基因注释：HSPD1
📝 官方信息
官方名称：heat shock protein family D (Hsp60) member 1
功能摘要：This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010].
🎯 作为靶基因的剪接因子
- FUS 综合评分: 0.496 · 证据 1 条
- fus 综合评分: 0.496 · 证据 1 条
- HNRNPC 综合评分: 0.448 · 证据 2 条
- HNRNPM 综合评分: 0.448 · 证据 2 条
- Tardbp 综合评分: 0.430 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- RBM22 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- UPF1 综合评分: 0.306 · 证据 1 条
- HNRNPD 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
- PTBP1 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录