基因注释：PMVK
官方信息
官方名称：phosphomevalonate kinase
功能摘要：This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Rbmx 综合评分: 0.224 · 证据 1 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- U2af2 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
- YBX1 综合评分: 0.100 · 证据 1 条
关联疾病
该基因暂无关联疾病记录