🧬 基因注释：GLA
📝 官方信息
官方名称：galactosidase alpha
功能摘要：This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.444 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.324 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- PTBP1 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
- fus 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CSTF2 综合评分: 0.212 · 证据 2 条
- Srsf1 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- Rbpms 综合评分: 0.162 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录